Ординатура / Офтальмология / Английские материалы / The Pediatric Glaucomas_Mandal, Netland_2006

47.Coleman AL, Smyth RJ, Wilson MR, et al. Initial clinical experience with the Ahmed glaucoma valve implant in pediatric patients. Arch Ophthalmol 1997; 115:186–191.

48.Bellows AR, McColley JP. Endophthalmitis in aphakic patients with implanted filtering blebs wearing contact lenses. Ophthalmology 1981; 88:839–843.

49.Bock CJ, Freedman SF, Buckley EG, Shields MB. Transcleral diode laser cyclophotocoagulation for refractory pediatric glaucomas. J Pediatr Ophthalmol Strabismus 1997; 34:235–239.

50.Wagle NS, Freedman SF, Buckley EG, et al. Long-term outcome of cyclocryotherapy for refractory pediatric glaucoma. Ophthalmology 1998; 105:1921–1926.

51.Kirwan JF, Shah P, Khaw PT. Diode laser cyclophotocoagulation: role in the management of refractory pediatric glaucomas. Ophthalmology 2002; 109:316–323.

52.Chen TC, Walton DS, Bhatia LS. Aphakic glaucoma after congenital cataract surgery. Arch Ophthalmol 2004; 122:1819–1825.

Introduction

Goals of low vision evaluation

Low vision assessment

Management

Conclusions

Introduction

Parents may develop frustration, guilt, and confusion after the birth of a visually impaired child. However, the development of a visually impaired child is similar to that of a sighted child, except that the process is slower.1 The later the onset of visual impairment due to developmental glaucoma, the more normal is the child’s development because of the acquisition of visual memory in the intervening period. According to Barraga,2 visual functioning is a learned behavior that is ‘primarily developmental.’ More visual experiences stimulate additional pathways of the brain, which leads to greater accumulation of a variety of visual images and memories. Early intervention may restore and maintain visual functioning, which allows the child to develop and function as close to normal as possible.

Goals of low vision evaluation

One objective of the low vision evaluation is to determine the extent of vision and thereby provide an accurate description of the child’s ability to function. Another objective is to provide low vision devices in order to increase the child’s functioning capacity.

Low vision assessment

A low vision assessment in patients with developmental glaucoma should follow a structured approach that allows accurate description of the level of visual function.

History

The history should be obtained from the immediate caregiver (usually the parents) or a person who knows best about the visually impaired child. The history should include information about the development of the child, including milestones of development, prenatal, and antenatal history. In older children, the history should also include information about their use of vision, including their mobility, academic

activities, book reading, school performance, and peer group interactions. Any additional disabilities and their treatments by other professionals should also be recorded.

Visual acuity

Distance acuity Because developmental glaucoma manifests itself at birth or early infancy,3 visual function should be assessed as early as possible, in order to provide the caregiver with appropriate suggestions for visual stimulation. Visual acuity measurement provides a baseline measurement from which the amount of magnification needed and other treatments can be determined. These measurements also enable the practitioner to educate the parents and teachers of the visually impaired child about the child’s visual abilities and limitations.

The testing of the vision of a child with developmental glaucoma varies depending on the age of the child (Table 15.1). In infants, an estimate of visual abilities can be judged by observation of the pupillary reaction to light, head turn towards a light source, blink response to a bright light, and oculokinetic nystagmus response.4 These responses may not be obtained if the child is very photophobic.3

As the child grows older (preverbal age group), a variety of tests may be employed for vision assessment. These tests include preferential looking tests (for example, Teller acuity cards, Cardiff acuity cards), visually evoked potential, and Catford drum (Fig. 15.1). Tests for vision in preverbal children

Table 15.1 Vision testing in infants and children

Infants

Pupillary reaction to light

Head turn toward a light source

Blink response to bright light

Oculokinetic nystagmus response

Preverbal children

Preferential looking tests

Teller acuity cards, Cardiff acuity cards

Visually evoked potential

Catford drum

Older children

Light House symbol test

Landold’s C, Illiterate E

HOTV test

Snellen charts

Sheridan–Gardiner test

are available in specialized pediatric ophthalmology offices.5 In older children (3 years and older), optotypes may be used for vision assessment. Some of these include the Light House symbol test,6 Landolt’s C, Illiterate E, HOTV test, Snellen charts, and the Sheriden–Gardiner test.

Near acuity

In young children (preschool), tests that require the naming or matching of letters,7 numbers, or symbols should be used. In older children, their own textbooks may be used to assess near acuity. Usually the near acuity is better than the corresponding distance acuity in children. This is because of the ample accommodation in the younger age group. These children are able to read by holding the reading material close to their face.8

Refraction

Large refractive errors may be overlooked in children.9 In 220 children in an urban tertiary eye center in South India, correction of ametropia with spectacles was the most common treatment (30%) provided to children with low vision.10 Children with advanced developmental glaucoma usually have axial high myopia, resulting from elongation of the eyeball due to increased intraocular pressure.3 These children may also have irregular astigmatism due to Haab’s striae or other causes. The refraction may be difficult if the children are photophobic. In such cases and in infants, refraction is best performed during examination under anesthesia.

In eyes with a poor retinoscopic reflex, retinoscopy may be performed at a very close distance (‘radical retinoscopy’).11 When this procedure fails to produce a retinoscopic reflex, biometry may be helpful.12,13 When the examiner suspects astigmatic errors, keratometry may be performed. A rough estimate of the refractive error can be obtained by determining the dioptric power necessary to visualize the fundus using the direct ophthalmoscope, although this procedure does not account for astigmatic errors.14

For infants, the examiner provides the refractive correction based on the objective refraction. Accurate refractive correction is essential, in order to form a clear image on the child’s retina. In older children, subjective refraction may also be performed. The examiner should avoid the use of the phoropter, instead use appropriate pediatric trial frames or lenses that are comfortable for the child.11

Binocularity

In about two-thirds of cases of developmental glaucoma, the disease is bilateral with one eye at a more advanced stage than the fellow eye.3 In these asymmetric cases, there is often lack of binocularity. When the child is binocular and has asymmetric acuities in the two eyes, low vision devices are provided for the better eye. The most reliable tests for binocularity are the cover test and monocular acuities.11 Stereopsis can be assessed in older children using various commercial devices (Fig. 15.2). When a child is functionally monocular, patching the weaker eye may be useful. Retinal rivalry can exist when the visual acuity in one eye is about 2/60 and 6/36 in the better eye.11

Visual fields

Although young children may not be able to perform perimetry, visual field examination should be performed whenever possible (Fig. 15.3). The visual field examination helps to determine whether the visual loss is sufficient to affect the child’s mobility and performance with the prescribed low vision devices.9 When severe peripheral field loss is present, the child will require mobility or vision efficiency training. When formal visual field testing is not possible, information about the child’s navigational abilities in familiar and unfamiliar areas may be useful.

Illumination

Children with developmental glaucoma are often photophobic.3 They may prefer the indoor, less brightly illuminated

Figure 15.3 Automated perimetry to assess visual field may be performed in older children.

environment to outdoor play activities. Light-controlling devices, including visors, wide-brimmed hats, and sun filters,9 may be useful in brightly illuminated areas.15 In appropriate patients, glare can be assessed using Brightness Acuity Tester.16

Contrast sensitivity

In adults, contrast sensitivity is affected in the early stages of glaucoma, perhaps before any clinically visible damage.17 Liou and Chiu18 have shown that contrast sensitivity losses occur in medium (6 to 12 diopters) and high myopes (>12 diopters) corrected with spectacles. High power spectacle lenses can introduce significant aberrations, including oblique astigmatism, curvature of the field, distortion, and chromatic aberration, which can lead to image degradation.19 The aberrations and image degradation influence higher spatial frequencies,20,21 but contact lenses can reduce these aberrations.22 Although little is known about contrast sensitivity in patients with developmental glaucoma, these children are often myopic and corrected with spectacles, which is likely associated with abnormalities of contrast sensitivity.

Contrast-enhancing measures include use of bold-line notebooks and black felt-tip pens in school-age children. An infant who does not give a social smile is considered unresponsive and may receive less attention. If the contrast sensitivity is impaired, appropriate measures to improve the contrast in the child’s environment may be helpful. Contrast on the face of the mother may be improved by application of dark colored lipstick. Infants can wear brightly colored half-mittens, nail polish, or bracelets to enable them to look at their hands.23 Older children with impaired contrast sensitivity will require more magnification than would be expected by their level of visual acuity and they benefit from increased illumination when performing near-range tasks such as reading.

Management

The management of the visually impaired child with developmental glaucoma begins with accurate refractive correction. High refractive index material in high myopic spectacles may reduce the weight of the glasses and decrease the thickness of the lenses, which increases patient acceptance.

Devices

If the child has problems with distance vision tasks (for example, chalkboard work) despite refractive correction and appropriate environmental modifications (for example, sitting near the chalkboard), telescopes are recommended (Fig. 15.4). These telescopes may be hand-held or spectaclemounted. Usually 4× is the best option in telescopes, providing a useful compromise between adequate magnification and field of view.24 Apart from the cost, the appearance of these telescopes is a major barrier to their acceptance.

In many instances, children with developmental glaucoma may not need any low vision device for near work (Fig. 15.5).

Figure 15.4 Telescope for distance vision tasks.

Figure 15.5 Near reading with spectacle correction.

If children have problems with reading fine print (for example, in dictionaries and maps), low-powered hand or pocket magnifiers (2× to 3×) may be helpful. The examiner should reassure the parents about close reading distances. A reading stand or other non-optical devices may improve comfort and reduce postural problems due to close reading distances.

Reading lamps with fluorescent light may improve contrast and facilitate reading. Other non-optical devices include sun filters, photochromic lenses, hats with visors or broad brims, bold-line notebooks, and black felt-tip pens.

Training

In addition to providing low vision devices, children should be trained in the use of these devices.11 The reduced field of vision and spatial distortions associated with some of the low vision devices require children to learn new motor patterns that involve head, hand, and eye coordination. Structured training programs in the use of low vision devices should be planned and discussed with the child and parents. The training should be appropriate for the recommended devices. Telescopes for distance vision require an explanation and a demonstration of the inherent limitations of the field of view and parallax displacement of objects. Training can be provided in a simulated classroom setting.

Low vision devices should be dispensed after the child has demonstrated proficiency in their use. The low vision

specialist should also provide a detailed evaluation report to the teacher so that the teacher can assist the child with the use of low vision devices in the classroom. Teachers of visually impaired children often provide a liaison between the low vision clinic, home, and school.25

Orientation and mobility training helps the visually impaired child to become independent in school and in the community. Children with extensive peripheral field loss leading to problems in mobility may be provided with mobility training by an orientation and mobility instructor. Children with other impairments, such as hearing loss and mental retardation, should be referred to the appropriate professionals for their management.

Severe vision impairment

In a study of 91 children with microphthalmos, coloboma, and microcornea, Hornby and colleagues found that conventional spectacles improved vision significantly in about 51% of the children.24 They recommended that low vision assessment should be performed in any child who has bestcorrected visual acuity in the better eye of between 6/18 and 1/60. Low vision devices were rarely useful in cases of visual acuity less that 1/60 in the better eye.

Children with severe vision impairment (visual acuity less that 1/60 in the better eye) who also have corresponding poor near acuities benefit the most from Braille as the mode of education. Because Braille skills are more easily learned from 3 to 6 years of age, the decision to teach Braille must be made early.26 In children with markedly decreased vision, high-powered stand magnifiers may be used for limited spot reading.

Conclusions

Low vision rehabilitation in children is rewarding for the parents, the practitioner, and the child. Children with developmental glaucoma are visually rehabilitated best using a multidisciplinary approach, including teachers of visually impaired children, orientation and mobility instructors, low vision specialists, and parents. Because the disease affects children in their early developmental years, their eye care providers must help them make maximal use of their residual vision during these critical periods of development.

Children with developmental glaucoma should not be labeled ‘blind’ because, in fact, they often have a good prognosis for retaining their vision. Even in the presence of progressive disease with a poor prognosis, children should be encouraged to use their residual vision.27 These rehabilitative services may be provided by the treating ophthalmologist or other professionals who manage children with low vision.

References

1.Scholl G. Visual impairments. In: Scholl G, ed. The school psychologist and the exceptional child. The Council on Exceptional Children: Reston, VA; 1985:210.

2.Barraga NC, Collins M. Development of efficiency in visual functioning: an evaluation process. J Vis Imp Blindness 1980; 74:93–96.

3.Mandal AK. Current concepts in the diagnosis and management of developmental glaucomas. Ind J Ophthalmol 1993; 41:51–70.

4.Thompson C. Assessment of child vision and refractive error. In: Buckingham T, ed. Visual problems in childhood. Butterworth-Heinemann: Oxford; 1993:159–210.

5.Day S. History, examination and further investigation. In: Taylor D, ed. Paediatric ophthalmology, 2nd edn. Blackwell Science: London; 1997:77–92.

6.Brown J, Brown L. Picture visual acuity cards: house, apple, umbrella. National Newpatch 1980; 5:1–2.

7.Rahi JS. Examination of a child with visual loss. Comm Eye Health 1998; 11:36–38.

8.Repka MX. Refraction in infants and children. In: Nelson LB, Calhoun JH, Harley RD, eds. Pediatric ophthalmology, 3rd edn. WB Saunders: Philadelphia; 1991:94–105.

9.Jose RT. Treatment options. In: Jose RT, ed. Understanding low vision, 2nd edn. American Foundation For The Blind: New York; 1997:211–248.

10.Gothwal VK, Herse P. Characteristics of a pediatric low vision population in a private eye hospital in India. J Ophthalmic Physiol Opt 2000; 20:212–219.

11.Jose RT, Rosenbloom AA. The visually impaired child. In: Rosenbloom AA, Morgan MW, eds. Principles and practice of pediatric optometry. JB Lippincott: Philadelphia; 1990:361–387.

12.Belkin M, Ticho U, Susal A, Levinson A. Ultrasonography in refraction of aphakic infants. Br J Ophthalmol 1973; 57:845–848.

13.Gordon RA, Doniz BB. Refractive development of the human eye. Arch Ophthalmol 1985; 103:785–789.

14.Borish IM. Ophthalmoscopy. In: Borish IM, ed. Clinical refraction, 3rd edn. Professional Press: Chicago; 1970:501–525.

15.Elliott DB. Contrast sensitivity and glare testing. In: Borish IM, ed. Clinical refraction. Professional Press: Chicago; 1998:203–241.

16.Holladay JT, Prager TC, Truillo TC, et al. Brightness Acuity Tester and outdoor visual acuity in cataract patients. J Cat Refract Surg 1987; 13:67–69.

17.Ross JE, Bron AJ, Clarke DD. Contrast sensitivity and visual disability in chronic simple glaucoma. Br J Ophthalmol 1984; 68:821–827.

18.Liou SW, Chiu CJ. Myopia and contrast sensitivity function. Curr Eye Res 2001; 22:81–84.

19.Bennett AG, Rabbetts RS. Subsidary effects of correcting lenses: magnifying devices. In: Clinical Visual Optics. Butterworths: London; 1984:268–271.

20.Campbell FW, Green DW. Optical and retinal factors affecting visual resolution. J Physiol 1965; 181:576–583.

21.Legge GE, Mullen KT, Woo GC, Campbell FW. Tolerance to visual defocus. J Opt Soc Am A 1987; 4:851–863.

22.Stone J. Practical optics of contact lenses and aspects of contact lens designs. In: Contact Lenses. Butterworths: London; 1980:91–96.

23.Sterns GK, Hyvarinen L. Addressing pediatric issues. In: Fletcher DC, ed. Low vision rehabilitation: caring for the whole person. American Academy of Ophthalmology, Ophthalmology Monograph Series: San Francisco; 1999:107–119.

24.Hornby SJ, Adolph S, Gothwal VK, et al. Requirement for optical services in children with microphthalmos, coloboma and microcornea in Southern India. Eye 2000; 14:219–224.

25.Nott J. The use of low vision aids by children under the age of seven years. Br J Vis Impairment 1994; 12:57–59.

26.Silver J, Gould E. Management of visual disability in children. In: Buckingham T, ed. Visual Problems In Childhood. Butterworth-Heinemann: Oxford; 1993:299–309.

27.Silver J. The visually impaired child: techniques in prescribing and assisting. Ophthalmic Optician 1979; 23:897–900.

A

A-scan ultrasound ocular biometry, 34, 72 acetazolamide, 59, 60

adrenergic agonists, 61–2 age

choice of therapy and, 56 at onset, 5

vision testing and, 103–4 Ahmed Glaucoma Valve, 83, 84, 85 albinism, oculocutaneous, 43

Allen, L., 2

alpha-2 agonists, 61–2 ametropia, 104 amyloid, 36 amyloidosis, 35, 36

Anderson, J. Ringland, 1, 55 anesthesia, 31

examination under see examination under anesthesia intraocular pressure effects, 31–2

risks, 78

angiomatosis retinae, 6, 49, 50

angle, anterior chamber see anterior chamber angle angle-closure glaucoma

in aphakia and pseudophakia, 94–5, 96 surgical treatment, 56, 87

aniridia, 8, 47–9

clinical features, 48–9 cyclocryotherapy complications, 86 differential diagnosis, 46, 49 embryologic basis, 16

genetics, 20–1

management of glaucoma, 49, 56 penetrating keratoplasty, 91

anisometropia, 29 anterior chamber angle

abnormal development, 14–15 in aniridia, 48, 49

in Axenfeld–Rieger syndrome, 42 examination see gonioscopy histopathologic changes, 23–5 normal development, 12–14, 32

primordial endothelial layer see endothelial layer, primordial anterior chamber cleavage syndrome see Axenfeld–Rieger syndrome anterior ocular segment

concepts of development, 11 normal development, 11–14

anticholinesterase drugs, 62 antifibrosis drugs

in aphakia and pseudophakia, 99–100

in refractory pediatric glaucoma, 81–2, 83 antimetabolites see 5-fluorouracil; mitomycin-C aphakia and pseudophakia, glaucoma in, 6, 93–102

causes of delay in diagnosis, 95 diagnostic clues and evaluation, 98–9 mechanisms, 95–8

medical therapy, 62, 99 prevalence, 94

risk factors, 98

time interval to onset, 94–5 treatment, 99–101

vs. ocular hypertension, 93–4 apnea

beta-blocker induced, 59 perioperative, 62, 77, 78

apraclonidine, 61

arachnoid cyst, congenital parasellar, 43 asthma, 59, 60

astigmatism, 28, 29, 104 ataxia–telangiectasia, 49

Axenfeld–Rieger syndrome (anterior chamber cleavage syndrome), 9, 41–6 clinical features, 42–3

differential diagnosis, 44–6 genetics, 20 histopathology, 24, 43 management, 46 pathogenesis, 15, 44–5 Peters anomaly and, 47

Axenfeld’s anomaly, 7, 8, 41 axial length of eye, 34, 72

B

B-scan ultrasonography, 34 Baerveldt implants, 83, 84, 85 Barkan, Otto, 1, 65

Barkans goniotomy see goniotomy Barkans membrane, 1, 14, 23, 24 basal cell nevus syndrome, 49 beta-blockers, 59–60, 99 betaxolol, 59

bilateral surgery, simultaneous see simultaneous bilateral surgery bimatoprost, 59

binocularity, assessment, 104 birth trauma, 35

bleb-related infections, postoperative, 82 blepharospasm, 27, 30

blue-sclera appearance, 28, 29

Bourneville syndrome (tuberous sclerosis), 49, 50 Bowman’s membrane, in Peters anomaly, 47 Braille, 106

brimonidine, 61, 62 brinzolamide, 59

broad thumb syndrome, 6, 52 buphthalmos

choice of therapy and, 57–8 defined, 5

historical descriptions, 1, 2

in primary congenital glaucoma, 28–9 see also ocular enlargement

Burian, H.M., 2, 67

C

capsulopupillary vessels, lateral, 16 carbonic anhydrase inhibitors, 59, 60–1

cardiopulmonary arrest, perioperative, 77, 78

cataract surgery glaucoma after, 93–102

simultaneous bilateral, 78 cataracts

in aniridia, 48–9

Peters anomaly and, 47 Chandler’s syndrome, 44 chloral hydrate, 30 cholinergic drugs, 62 choroid, atrophy, 25 chromosomal anomalies, 52 chromosome 1q23–q25, 20

chromosome 6p25 mutations, 16 chromosome 11 deletion, 21 ciliary body

abnormal development, 14, 15 atrophy, 25

histopathology, 24 normal development, 13

classification, 2, 6–9

anatomical (Hoskins et al), 2, 6–8 systems, 6–7

Cogan–Reese syndrome, 44 collagen, 23, 25 colobomas, 8, 48

combined trabeculotomy–trabeculectomy, 69–71 long-term outcome, 71

operative procedure, 69–70 postoperative care and follow up, 70–1 simultaneous bilateral, 78–9

in Sturge–Weber syndrome, 56

Congenital and Pediatric Glaucomas (Shaffer & Weiss), 2 congenital glaucoma, defined, 5

congenital hereditary endothelial dystrophy (CHED), 35, 37 congenital hereditary stromal dystrophy, 37

congenital rubella syndrome see maternal rubella syndrome conjunctivitis, 34–5

consanguinity, 19 contrast sensitivity, 105 corectopia

in Axenfeld–Rieger syndrome, 43 in ectopia lentis et pupillae, 46

glaucoma drainage implants and, 85

in iridocorneal endothelial syndrome, 44 cornea

in Axenfeld–Rieger syndrome, 42, 43 central lesions, 8, 46–7 development, 12

effects of elevated intraocular pressure, 25, 28 examination under anesthesia, 31 midperipheral lesions, 8

peripheral lesions, 8, 42 in Peters anomaly, 46–7

in primary congenital glaucoma, 23–4, 30 scarring, 25, 30

verticillata, 37

corneal clouding see corneal opacities corneal dermoid, 37

corneal diameter

choice of therapy and, 57–8 enlargement see corneal enlargement measurement, 31, 72, 98

normal, 28 corneal dystrophies

congenital hereditary endothelial, 35, 37 congenital hereditary stromal, 37 lattice, 36

Meesman’s, 35

posterior polymorphous (PPD), 37, 44, 45 Reis–Buckler, 35

corneal edema

differential diagnosis, 35–8

in iridocorneal endothelial syndrome, 44 in primary congenital glaucoma, 28

corneal endothelium

in Axenfeld–Rieger syndrome, 42 decompensation, 25, 90, 91 development, 12, 13

elevated intraocular pressure effects, 25, 28 in iridocorneal endothelial syndrome, 44

in posterior polymorphous dystrophy, 45 in primary congenital glaucoma, 24

see also endothelial layer, primordial corneal enlargement

choice of therapy and, 57–8 differential diagnosis, 35 pathological effects, 25

in primary congenital glaucoma, 28 see also megalocornea

corneal haze see corneal opacities corneal leukomas, congenital, 47 corneal opacities (and clouding)

in aniridia, 48, 49

in Axenfeld–Rieger syndrome, 42 choice of therapy and, 57 differential diagnosis, 35–8 penetrating keratoplasty, 89–91 in Peters’ anomaly, 46–7

in primary congenital glaucoma, 28 corneal stroma

development, 12

in primary congenital glaucoma, 23–4, 28 corneal transplantation, 89–91

corneal ulcer, Von Hippel’s internal, 47 corneodysgenesis, 2, 5 corneoiridotrabeculodysgenesis

classification, 8 management, 56

cyclocryotherapy, 85–6, 101 cyclodestructive procedures

in aphakia and pseudophakia, 101 in refractory glaucoma, 85–7

cyclodialyses, 77 cyclopentolate, 33

cyclophotocoagulation, 85, 86, 101 cyclopropane, 31

CYP1B1 gene mutations, 16, 20 cystinosis, 35, 36

cytochrome P4501B1 gene mutations, 16, 20

D

de Vincentis’ operation, 1, 65 DeLuise–Anderson (1983) classification, 6 dental anomalies, 43, 46

dermoid, corneal, 35, 37 Descemet’s membrane, 12

in elevated intraocular pressure, 25, 28 in Peters’ anomaly, 46–7

in posterior polymorphous dystrophy, 45 rupture, in birth trauma, 35

developmental glaucomas classification, 6–9 defined, 5

embryologic basis, 11–17 epidemiology, 19 genetics, 19–21

historical perspective, 1–3 management, 55–8

pathology and pathogenesis, 23–6 terminology, 5–6

diffuse congenital hemangiomatosis, 49 digenic inheritance, 20

dipivefrin hydrochloride, 62 dorzolamide, 59, 60–1 double ring sign, 38

Down syndrome, 52

drainage implant surgery see glaucoma drainage implants Duke-Elder, Sir Stewart, 2

dysgenesis mesodermalis corneae et iridis see Axenfeld–Rieger syndrome

E

echothiophate iodide, 62 ectoderm, 11

ectopia lentis (lens subluxation) in aniridia, 48

in homocystinuria, 51

in primary congenital glaucoma, 30 ectopia lentis et pupillae, 46 ectropion uvea, congenital, 45–6 Edward syndrome, 52

embryologic basis, 11–17 embryonic fissure, 12 embryotoxon, posterior, 8, 41, 42 emmetropization, 34

empty sella syndrome, primary, 43

encephalotrigeminal angiomatosis see Sturge–Weber syndrome endophthalmitis, postoperative, 77–8, 79

endoscopic cyclophotocoagulation, 86 endoscopic goniotomy, 67

endothelial layer, primordial, 13–14

in Axenfeld–Rieger syndrome, 15, 44–5 in primary congenital glaucoma, 14, 23

see also Barkan’s membrane; corneal endothelium enucleation, 2

epidemiology, 19 epinephrine, 62, 99 epiphora (excessive tearing)

differential diagnosis, 34–5

in primary congenital glaucoma, 27, 30

episcleral venous pressure, elevated, 25, 50–1, 56, 85 examination, initial, 30–1

examination under anesthesia (EUA), 31–4 in aphakia and pseudophakia, 98

at follow-up, 70, 71 interpretation of findings, 34

external trabeculotomy see trabeculotomy ab externo extracellular matrix, 14, 23, 25

eye enlargement see ocular enlargement

F

Fabry disease, 35, 37 facial anomalies, 43 facial hemiatrophy, 46 Fanconi syndrome, 51 filtration surgery

in aphakia and pseudophakia, 87–100 in refractory glaucoma, 81–2, 83

in Sturge–Weber syndrome, 56–7 see also trabeculectomy

FKHL7 gene see FOXC1 gene 5-fluorouracil (5-FU), 81, 99–100 follow-up

after cataract surgery, 99 after glaucoma surgery, 71–2

forkhead transcription factor, 16, 20 founder effect, 19, 20

FOXC1 gene, 16, 20

FREAC3 gene see FOXC1 gene fundus photography, ocular, 33, 72

G

genetic counseling, 21 genetics, 16, 19–21 germ-layer theory, 11 Gillespie’s syndrome, 21 glaucoma

in aniridia, 48

in aphakia and pseudophakia see aphakia and pseudophakia, glaucoma in

in Axenfeld–Rieger syndrome, 43, 45, 46 criteria for diagnosis, 93–4

in iridocorneal endothelial syndrome, 44, 45 in Peters’ anomaly, 47

in phakomatoses, 49–51

in posterior polymorphous dystrophy, 45 severity, choice of therapy and, 57

glaucoma drainage implants

in aphakia and pseudophakia, 100 in refractory glaucoma, 83–5

Glaucoma in Infants and Children (Kwitko), 2 GLC3A, 19–20

GLC3B, 20

glucose-6-phosphate deficiency, 35, 37 glycerine, 62

glycerol, 62 glycoproteins, 14 Goldmann lens, 32 goniodysgenesis, 2, 5 gonioscopy, 30, 31, 32–3

in aphakia and pseudophakia, 98–9 in Axenfeld–Rieger syndrome, 42

in primary congenital glaucoma, 32–3 goniotomy, 65–7

endoscopic, 67 equipment, 65–6 history, 1, 2

mechanism of effect, 25 outcome, 66, 67 procedure, 66 simultaneous bilateral, 77

vs. trabeculotomy ab externo, 67, 68–9 growth hormone deficiency, 43

H

Haab’s striae, 25, 28 Hallerman–Streiff syndrome, 49 halothane anesthesia, 31, 32 hamartias, 49

hamartomas, 49 Harms, H., 2 hemangioma, iris, 50

hemangiomatosis, diffuse congenital, 49 heparan sulfate proteoglycans, 14 heredity, 19

herpes simplex

congenital or neonatal ocular, 35–6 iridocyclitis, 6

keratitis, 90 histopathology, 23–5, 43 historical perspective, 1–3 history, low vision, 103 homocystinuria, 6, 51, 57

Hoskins, Shaffer and Hetherington (1984) classification, 2, 6–7 Hunter syndrome, 36

Hurler syndrome, 36

hyaloid system, posterior, 15–16 hydrophthalmia

defined, 5

historical descriptions, 1, 2, 55

Hydrophthalmia or Congenital Glaucoma (Anderson), 2

medical therapy, 55, 59–63

in aphakia and pseudophakia, 62, 99 Meesman’s corneal dystrophy, 35 megalocornea, 8

in Axenfeld–Rieger syndrome, 42 differential diagnosis, 35

X-linked recessive, 8

see also corneal enlargement membrane

in Axenfeld–Rieger syndrome, 44–5 Barkan’s see Barkan’s membrane

in iridocorneal endothelial syndrome, 44 mesenchyme, 11

mesodermal, 12

neural crest-derived, 11, 12 mesoderm, 11, 12

mesodermal dysgenesis of the cornea and iris see Axenfeld–Rieger syndrome

metabolic diseases, 36–7, 51 metachromatic leukodystrophy, 37 microcornea, 8

in aniridia, 49

aphakic/pseudophakic glaucoma and, 97, 98 in Axenfeld–Rieger syndrome, 42

microscope, operating, 2, 66 microspherophakia, 6 microsurgery, 2

Microsurgery Study Group, International Symposia, 2 Middle East, 19, 20

miotic drugs, 62, 99 mitomycin-C

in aphakic and pseudophakic glaucoma, 99–100 in primary glaucoma surgery, 70, 71

in refractory glaucoma, 81–2, 83, 85 mobility training, 106

Molteno implants, 83, 84, 85, 100 Morquio syndrome, 36 mucolipidoses, 35, 36

mucopolysaccharidoses (MPS), 35, 36 mydriasis, 33

MYOC gene, 20 myopia, 104, 105

differential diagnosis, 35, 38 miotic-induced, 62

in primary congenital glaucoma, 29, 34

N nanophthalmos, 8

nasolacrimal drainage system, obstruction, 34, 35 neural crest cells, 12

abnormal development, 14, 24 ocular derivatives, 11, 12

neurocristopathies, 9, 15 neurofibromatosis, 6, 15, 24, 46, 49, 50 nevoxanthoendothelioma, 6

nevus of Ota, 49, 50

nylon filament trabeculotomy, 2, 67 nystagmus, in aniridia, 49

O

obstetric trauma, 35 ocular enlargement, 25

at follow-up, 72

in primary congenital glaucoma, 27, 28–9 ultrasonic biometry, 34

see also buphthalmos ocular hypertension

vs. glaucoma, in aphakia and pseudophakia, 93–4 see also intraocular pressure, elevated

oculocerebrorenal syndrome of Lowe, 6, 36, 51

glaucoma after cataract surgery, 93 management, 57

oculodentodigital dysplasia, 46

oculodermal melanocytosis (nevus of Ota), 6, 49, 50 Ocusert, 62

open-angle glaucoma, in aphakia and pseudophakia, 95, 96–8 ophthalmoscopy

at follow-up, 71, 72

in primary congenital glaucoma, 33 optic cup

developmental abnormalities, 16 formation, 12

optic disc

congenital malformations, 35, 38 evaluation, 33

tilted, 35

optic (embryonic) fissure, 12 optic nerve

abnormalities, differential diagnosis, 38 hypoplasia, 38, 49

in primary congenital glaucoma, 28, 33 optic nerve cupping, 25

cup-to-disc ratios, 33 follow-up, 72 physiologic, 33, 35, 38

in primary congenital glaucoma, 29–30, 33 reversibility, 29–30, 33

optic stalk, 11, 12 optic vesicle, 11, 12 orientation training, 106 osmotic drugs, 62 oxygen therapy, 51

P

Patau’s syndrome (trisomy 13–15 syndrome), 6, 52 pathology/pathogenesis, 23–6

PAX6 gene, 21 pectinate ligament, 24

fetal, 13

penetrating keratoplasty, 89–92 in congenital glaucoma, 89–91 timing of glaucoma surgery, 91

Perkins hand-held applanation tonometer, 31, 32

persistent hyperplastic primary vitreous (PHPV), 6, 8, 16, 51 Peters’ anomaly, 8, 9, 46–7

clinicopathologic features, 46–7 differential diagnosis, 37–8, 45, 47 embryologic basis, 15 histopathological changes, 24 management, 47

phakomatoses, 9, 15, 49–51 phenylephrine, 33 phospholine iodide, 62

photography, ocular fundus, 33, 72 photophobia

in aniridia, 48 illumination and, 104–5

in primary congenital glaucoma, 27, 30 Pierre Robin syndrome, 6

pilocarpine, 62, 99

pituitary gland anomalies, 43 posterior embryotoxon, 8, 41, 42 posterior keratoconus, 47

posterior polymorphous dystrophy (PPD), 37, 44, 45 Prader–Willi syndrome, 46

primary congenital glaucoma, 27–39 clinical features, 27–30

defined, 5–6

diagnostic examination, 30–4 differential diagnosis, 34–8