Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

TABLE 10-2. (continued).

Ocular Findings

Common: vascular retinal abnormalities and retinal pigment epithelial cell abnormalities may lead to retinal ischemia, new vessel proliferation, bleeding, and fibrosis (40%), strabismus (30%), refractive errors

Less common: retinal detachment (may be congenital), uveitis, keratitis, cataract, microphthalmia, optic atrophy

Jackson–Weiss Syndrome Craniosynostosis-Foot Defects, Jackson–Weiss Type

MIM #123150 Gene map locus: 10q26, 8p11.2–p11.1. Inheritance: autosomal dominant. Three families reported.

General Description: craniosynostosis, prominent forehead, maxillary hypoplasia, bony abnormalities of the feet, cutaneous syndactyly of second and third toes. Intelligence is generally normal.

Ocular Findings: ocular proptosis, hypertelorism, strabismus

Jarcho–Levin Syndrome Spondylothoracic Dysplasia Syndrome MIM #277300 Gene map locus: 19q13. Inheritance: autosomal recessive. Over 21 cases reported.

General Description: short stature, short trunk, short neck, normal length limbs, prominent occiput, broad forehead, wide nasal bridge, short thorax with “crablike” rib cage, other rib anomalies, multiple vertebral defects, protuberant abdomen. The majority of patients die in early infancy as a result of recurrent respiratory infections.

Ocular Findings: up-slanting palpebral fissures

Jeune Thoracic Dystrophy Asphyxiating Thoracic Dystrophy MIM *208500 Inheritance: autosomal recessive. Over 100 cases reported.

General Description: short stature, small thorax, short limbs, hypoplastic iliac wings; lung hypoplasia is a major cause of death in early infancy; renal cystic tubular dysplasia and/or glomerular sclerosis, biliary dysgenesis with portal fibrosis and bile duct proliferation

Ocular Findings: retinal degeneration with predominantly cone-type cells remaining

Johanson–Blizzard Syndrome MIM *243800 Inheritance: autosomal recessive. Over 28 cases reported.

General Description: short stature, mental deficiency (70%), sensorineural deafness (75%), hypotonia (80%), variable sparse hair with frontal upsweep (96%), hypoplastic ala nasi, imperforate anus, genitourinary abnormalities, hypothyroidism (30%), pancreatic insufficiency with malabsorption (100%)

Ocular Findings

Common: nasolacrimal duct cutaneous fistula (66%)

Less common: strabismus

Joubert Syndrome Cerebellar Parenchymal Disorder, Type IV MIM *213300, 243910 Gene map locus: 9q34.3. Inheritance: autosomal recessive. Over 45 cases reported.

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

General Description: neonatal episodes of tachypnea and apnea, hypotonia, ataxia, tremor, mental retardation, cerebellar vermis hypoplasia, in some patients renal cysts are present

Ocular Findings

Common: nystagmus, oculomotor apraxia, retinal dystrophy in patients with renal cysts

Less common: bilateral chorioretinal colobomas, optic nerve colobomas. Rarely, congenital fibrosis of the extraocular muscles.

Kabuki Syndrome Niikawa–Kuroki Syndrome MIM 147920 Inheritance: sporadic. Over 100 cases reported.

General Description: postnatal growth deficiency, mental retardation, hypotonia, short incurved fifth finger, brachydactyly, rib anomalies, scoliosis, cardiac defects (50%), craniofacial abnormalities such as short nasal septum, large protuberant ears, preauricular pit, cleft palate, tooth abnormalities, open mouth with tented upper lip.

Ocular Findings

Common: long palpebral fissures with eversion of the lateral portion of the lower eyelid (often difficult to appreciate in the neonatal period), ptosis, epicanthal folds, arched eyebrows with sparse or dispersed lateral one third, strabismus

Less common: blue sclera

Kid Syndrome, Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant MIM 148210. Inheritance: autosomal dominant. Approximately 8 cases reported.

General Description: ichthyosiform erythroderma with mild lamellar ichthyosis and hyperkeratosis of the skin of the palms, soles, elbows, and knees. Variable alopecia, nail dystrophy, and malformations of teeth. Sensorineural deafness.

Recurrent skin infections ( 50%). One patient reported of having a “fatal skin cancer.”

Ocular Findings: progressive keratitis with neovascularization of the cornea (95%), which may lead to blindness

Kid Syndrome, Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive MIM 242150. Inheritance: autosomal recessive. Approximately 15 cases reported.

General Description: short stature, mental retardation, neuropathy, hepatic cirrhosis, hepatomegaly, hepatic glycogen storage, sensorineural deafness, cryptochidism, inguinal hernia, ichthyosiform erythroderma with mild lamellar ichthyosis and hyperkeratosis of the skin of the palms, soles, elbows, and knees. Variable alopecia, nail dystrophy, and malformations of teeth. Recurrent skin infections ( 50%).

Ocular Findings: progressive keratitis with neovascularization of the cornea (95%), which may lead to blindness

Killian/Teschler–Nicola Syndrome Pallister-Killian Syndrome MIM #601803 Gene map locus: mosaic tetrasomy 12p due to extra metacentric isochromosome. Over 30 cases reported.

TABLE 10-2. (continued).

General Description: profound mental deficiency, seizures, sparse anterior scalp hair, prominent forehead, coarsening of face over time, streaks of hyperand hypopigmentation, broad hands with short digits, accessory nipples, disproportionate shortening of arms and legs

Ocular Findings

Common: sparse eyebrows and eyelashes, up-slanting palpebral fissures, hypertelorism, ptosis, strabismus, epicanthal folds

Less common: cataract

Klippel–Trenaunay–Weber Syndrome (KTW Syndrome) Angio-Osteohypertrophy Syndrome MIM 149000 Inheritance: sporadic. Over 800 cases reported.

General Description: congenital or early childhood hypertrophy of soft tissues and bone of limbs (the condition involves one leg in 75% of cases). Vascular skin lesions including: capillary and cavernous hemangiomas, phlebectasia, and varicosities, which are more common on the legs, buttocks, abdomen, and lower trunk. Unilateral distribution predominates but bilateral involvement is not uncommon. The hypertrophy may or may not coincide with the area of hemangiomatous involvement. Occasional abnormalities include facial nevus flammeus, asymmetrical facial hypertrophy, hyperpigmented nevi and streaks, skin ulcers and vesicles, cutis marmorata, telangiectasia, arteriovenous fistula, lymphangiomatous anomalies, macrodactyly, syndactyly, polydactlyly, microcephaly, macrocephaly, intracranial calcifications, visceromegaly, mental deficiency, seizures, small or tall stature, aberrant major blood vessels, hemangiomata of the intestinal tract, urinary system, mesentery, and pleura.

Ocular Findings: Port-wine nevus (nevus flammeus) in the distribution of the first and second divisions of the trigeminal nerve (these patients are at risk for neuro-ocular involvement). (See Sturge-Weber Syndrome.)

Kniest Dysplasia Metatropic Dwarfism II MIM #156550 Inheritance: autosomal dominant. Fifteen cases reported. There is evidence that the causative mutation resides in the COL2A1 gene (*120140 Gene map locus: 12q13.11–q13.2). An autosomal recessive lethal form of Kniest-like dysplasia was reported in male and female offspring of nonconsanguineous parents (245190). A Kniest-like dysplasia with microstomia, pursed lips, and ectopia lentis was described in two siblings, a male and a female (245160).

General Description: disproportionate short stature with short extremities and a short, barrel-shaped chest; enlarged joints with limited joint mobility and variable pain and stiffness, bowing and flexion contractures in hips, kyphoscoliosis; flat facies, low nasal bridge, cleft palate, hearing loss. Radiographically: dumbbell-shaped femurs, hypoplastic pelvic bones, platyspondyly, vertical clefts of vertebrae in the newborn period. By age 3 years, the pelvis becomes “dessert-cup” shaped.

Ocular Findings

Common: congenital severe myopia and vitreoretinal degeneration in all patients. Rhegmatogenous retinal detachment (60%).

Less common: cataract (30%), ectopia lentis

Langer–Giedion Syndrome Tricho-Rhino-Phalangeal Syndrome Type II, TRP II

MIM #150230 Gene map locus: 8q24.11–q24.13 Inheritance: autosomal dominant. Over 30 cases reported.

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

General Description: postnatal onset of mild growth deficiency, mild to severe mental deficiency, hearing loss, microcephaly, large laterally protruding ears, large bulbous nose, sparse scalp hair, loose redundant skin in infancy, maculopapular skin nevi, cone-shaped epiphyses, multiple exostoses of long tubular bones

Ocular Findings

Common: heavy eyebrows, deep-set eyes, exotropia

Less common: hypotelorism, ptosis, prominent eyes, epicanthal folds, iris coloboma, abducens palsy

Larsen’s Syndrome Desbuquois Syndrome MIM *150250, *245600 Gene map locus: 3p21.1–p14.1. Inheritance: autosomal dominant and autosomal recessive respectively. Six cases reported.

General Description: multiple joint dislocations with dysplastic epiphyseal centers developing in childhood, flat facies with depressed nasal bridge and prominent forehead, cleft palate, long nontapering fingers with spatulate thumbs, short fingernails, talipes equinovalgus or varus, dysraphism of spine

Ocular Findings Common: hypertelorism

Less common: entropion of lower eyelids, anterior cortical cataract

Leber’s Congenital Amaurosis, Type I, II, III, IV, V MIM #204000, #204100, *604232, #604393, *604537, Gene map locus: 19q13.3, 17p13.1, 1p31, 14q24, 6q11–q16. Inheritance: autosomal recessive. Incidence: 1:33,000.

General Description: in some patients: mental retardation, retarded growth, neurological disorders, hearing loss, midfacial hypoplasia, renal disorders, hyperthreoninemia

Ocular Findings: most common cause of congenital visual impairment in infants and children, vision ranges from 20/200 to bare light perception in most patients. The disease affects both rods and cones.

Common: nystagmus beginning in the second or third month of life, sluggish pupillary response, hyperopic refraction, vision of 20/200 to bare light perception. Ophthalmoscopic findings range from a normal appearance, particularly in infancy, to classic retinitis pigmentosa with bone spicules, attenuation of arterioles, and disc pallor. Other ocular abnormalities include cataract, keratoconus, keratoglobus, photophobia, oculodigital reflex (eye poking). Given the variability in fundus appearance, the diagnosis of Leber’s congenital amaurosis cannot be based on fundus appearace alone and requires an electroretinogram. Because both Refsum’s disease (infantile phytanic acid storage disease) and Bassen–Kornzweig syndrome (abetalipoproteinemia), which are treatable, have been reported to present as Leber’s congenital amaurosis, they should be ruled out.

Less common: irregularity of the retinal pigment epithelium, extensive chorioretinal atrophy, macular “coloboma,” white dots (similar to retinitis punctata albescens), marbleized retinal appearance, disc edema

Lenz–Majewski Hyperostotic Dwarfism Craniodiaphyseal Dysplasia-Lenz Majewski Type MIM 151050 Inheritance: autosomal dominant. Seven cases reported.

TABLE 10-2. (continued).

General Description: early failure to thrive, short stature, mental retardation, dense thick bone, proximal symphalangism, short or absent middle phalanges, delayed closure of fontanel, progeroid appearance. Cutis laxa in infancy, later skin becomes hypotrophic and thin with prominent subcutaneous veins, especially over the scalp, cutaneous syndactyly of the digits, absence of elastic fibers on skin biopsy. Sparse hair in infancy, dysplastic enamel of teeth. No affected patient has yet survived to adulthood.

Ocular Findings: hypertelorism with protuberant eyes, nasolacrimal duct stenosis

Leprechaunism Donohue’s Syndrome MIM #246200 Gene map locus: 19p13.2. Inheritance: autosomal recessive. Over 30 cases reported.

General Description: prenatal adipose deficiency, severe failure to thrive, small facies with full lips and large ears, islet cell hyperplasia, hyperglycemia, hyperinsulinemia. Death often occurs in early infancy.

Ocular Findings: prominent eyes, hypertelorism

Levy–Hollister Syndrome Lacrimo-Auriculo-Dento-Digital Syndrome, LADD Syndrome MIM *149730 Inheritance: autosomal dominant. Over 20 cases reported.

General Description: cup-shaped ears, mild to severe mixed conductive and sensorineural hearing loss, hypodontia, enamel hypoplasia, poor saliva production, digital abnormalities including digitalization of thumb, preaxial polydactyly, syndactyly between index and middle fingers, clinodactyly of third and fifth fingers, absent radius and thumb, shortening of radius and ulna

Ocular Findings

Common: nasolacrimal duct obstruction, aplasia or hypoplasia of lacrimal puncta (45%), alacrima due to hypoplasia or aplasia of lacrimal glands (40%)

Less common: nasolacrimal fistulae, hypertelorism, telecanthus, down-slanting palpebral fissures

Linear Nevus Sebaceous of Jadassohn MIM 163200 Inheritance: sporadic. Over 450 cases reported.

General Description: nevus sebaceous with hyperpigmentation and hyperkeratosis. The lesions, which are present at birth, are yellowish-orange or tan and brownish raised linear skin lesions on the face, head, and neck, or thorax, usually distributed along the midline. The nevi become verrucous and nodular at puberty, and malignant transformation may occur in the postpubertal period (15%–20%) especially into basal cell carcinoma; therefore, early surgical removal should be considered. Patients frequently have convulsions, developmental delay, and asymmetrical overgrowth. Vitamin D- resistant rickets sometimes occurs.

Ocular Findings: occasionally, the nevus may involve the eyelids extensively, and a large vascularized choriostomatous mass may comprise the lids, conjunctiva, and cornea. The conjunctival lesions are choriostomas and consist of hyperplastic sebaceous glands, apocrine glands, and immature hair follicles. Patients may have scarring and vascularization of the cornea. Other manifestations include nystagmus, strabismus, ptosis, short palpebral fissures, esotropia, optic nerve atrophy, subretinal neovascularization, cortical

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

blindness. Colobomatous microphthalmia, iris and choroidal colobomas, corectopia, limbal dermoids (which may enlarge during the first decade of life), lipodermoids, and intrascleral cartilage and bone have been reported.

Lipodystrophy, Partial, with Rieger Anomaly, Short Stature, and Insulinopenic Diabetes Mellitus MIM 151680. Inheritance: autosomal dominant. One family reported.

General Description: lipodystrophy (especially of the face and buttocks), short stature, insulinopenic diabetes mellitus, midface hypoplasia, hypotrichosis, joint hypermobility, retarded bone age

Ocular Findings: Reiger anomaly consists of anterior segment dysgenesis, resulting in hypoplasia of the anterior iris stroma in addition to the changes typical of Axenfeld’s anomaly (posterior embryotoxon accompanied by abnormal iris strands crossing the anterior chamber angle to attach to a prominent Schwalbe’s line). Other abnormalities may include glaucoma, microcornea, and corneal opacity. Glaucoma occurs in about 60% of patients by age 20 years.

Marden–Walker Syndrome MIM *248700, 600920 Inheritance: autosomal recessive. Twenty cases reported.

General Description: blepharophimosis (100%), multiple joint contractures present at birth, immobile facies with fixed facial expression (100%), micrognathia (100%), severe growth deficiency (90%), severe mental retardation (90%), hypotonia (85%), microcephaly (56%), cleft palate (40%). Death occurred at about 3 months of age in 19% of affected individuals.

Ocular Findings

Common: blepharophimosis (100%), strabismus (70%), ptosis, hypertelorism, “abnormal eyelashes”

Less common: microphthalmia

Marfan Syndrome MIM #154700 Gene map locus: 15q21.1. Inheritance: autosomal dominant. About 25% of cases arise as new mutations. Incidence: 1:10,000.

General Description: common and major manifestations of the disease include subluxation of the crystalline lens, dilation of the aortic root, aneurysm of the ascending aorta, and skeletal abnormalities such as kyphoscoliosis, an upper segment/lower segment ratio that is 2 standard deviations below the mean for age, and pectus excavatum. Myopia, mitral valve prolapse, arachnodactyly, joint laxity, tall stature, pes planus, striae atrophicae, pneumothorax, obstructive sleep apnea, and dural ectasia may also be present.

Ocular Findings

Common: subluxation of the lens (70%) is usually bilateral, slowly progressive in the first two decades of life, and varies in severity. Superior and temporal displacement of the lens is most common. The zonular fibers are stretched and may be reduced in number. Other common findings include flat cornea (average keratometric values are 41.38 2.04 D), increased axial length of the globe, miosis, and hypoplastic ciliary muscle.

Less common: cataracts (typically the nuclear sclerotic type) develop 10–20 years earlier than in the general population, a deep anterior chamber, prominent iris

TABLE 10-2. (continued).

processes to Schwalbe’s line, thin and velvety iris, with absent crypts and convolutions, iridodonesis. The pupil may be difficult to dilate. Strabismus (20%). Retinal detachment. Open-angle glaucoma is significantly more common in all age groups compared to the general population. Total dislocation of the lens into the vitreous cavity occurs rarely and may be complicated by phacolytic glaucoma and uveitis. Anterior dislocation of the lens into the pupil or anterior chamber is rare and may be complicated by pupillary block glaucoma. Microspherophakia has also been reported.

Maroteaux–Lamy Syndrome Mucopolysaccharidosis VI Mild, Moderate and Severe Types MIM *253200 Gene map locus: 5q11–q13. Inheritance: autosomal recessive. Rare disorder.

General Description: arylsulfatase B deficiency. Growth deficiency, coarse facies, mild stiffness of joints, thick and tight skin, small widely spaced teeth, hepatosplenomegaly, aortic valve dysfunction, varying degrees of deafness. No mental retardation. Most die of cardiopulmonary complications by the second or third decade.

Ocular Findings

Common: corneal clouding is marked (mucopolysaccharides are within the corneal epithelium), Bowman’s layer, and keratocytes

Less common: glaucoma, optic nerve swelling, optic atrophy, thickened and/or enlarged cornea, scleral thickening

Marshall Syndrome Deafness-Myopia-Cataract-Saddle Nose, Marshall Type MIM #154780 Gene map locus: 1p21. Can be caused by mutations in the COL11A1 gene, located on chromosome 1p21. Inheritance: autosomal dominant. Over 20 cases reported. (There remains debate as to whether Marshall syndrome and Stickler syndrome represent separate entities.)

General Description: short stature (relative to unaffected family members) and a stocky build. Flat and retracted midface with a saddle, short and depressed nose with a flat nasal bridge and anteverted nares. Prominent protruding upper incisors, thick lips. Sensorineural hearing loss noted as early as 3 years of age, with gradual progression to moderate or severe levels by adulthood. Calvarial thickening, absent frontal sinuses, congenital occipital cutis aplasia. Falx, tentorial, and meningeal calcifications. Spondyloephiphyseal abnormalities including mild platyspondyly, slightly small and irregular distal femoral and proximal tibial epiphyses, outward bowing of radius and ulna, and wide tufts of distal phalanges. Occasionally, mental deficiency, cleft palate.

Ocular Findings: high axial myopia, which becomes apparent during the first decade of life, infantile and juvenile cataracts, shallow orbits and appearance of large eyes, hypertelorism, esotropia, hypertropia, glaucoma, vitreoretinal degeneration, retinal breaks, retinal detachment.

Marshall–Smith Syndrome MIM 602535 Inheritance: sporadic. Over 20 cases reported.

General Description: accelerated growth and maturation, broad middle phalanges, motor and mental deficiency, long cranium with prominent forehead, upturned nose. Most patients die of respiratory infections in early infancy.

Ocular Findings: shallow orbits with prominent eyes, bluish sclera

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

Melnick–Fraser Syndrome Branchio-Oto-Renal (BOR) Syndrome MIM #113650 Gene map locus: 8q13.3. Inheritance: autosomal dominant. Incidence: 1:40,000 (the syndrome occurs in about 2% of profoundly deaf children).

General Description: the association of branchial arch anomalies (preauricular pits, branchial fistulas), hearing loss, and renal hypoplasia.

Ocular Findings

Common: lacrimal duct stenosis or aplasia

Less common: gustatory lacrimation (the shedding of tears during eating due to misdirected growth of seventh cranial nerve fibers)

Melnick–Needles Osteodysplasty MIM 309350, 249420 Inheritance: X-linked dominant form (autosomal recessive and autosomal dominant suggested). Over 30 cases reported.

General Description: small facies with prominent forehead, full cheeks, small mandible, micrognathia, malaligned teeth, late closure of fontanels. Short upper arms and distal phalanges, bowing of humerus, radius, ulna, and tibia. Relatively small thoracic cage with irregular ribbon-like ribs and short clavicles with wide medial ends and narrow shoulders, short scapulae, and pectus excavatum.

Ocular Findings

Common: exophthalmos, hypertelorism

Less common: strabismus, glaucoma

Microphthalmia with Linear Skin Defects Syndrome Midas Syndrome MIM *309801 Gene map locus: Xp22.31. Inheritance: X-linked (presumably lethal in hemizygous males). Over 10 cases reported.

General Description: dermal aplasia, without herniation of fatty tissue, usually involving face, scalp, and neck but occasionally upper part of the thorax. Occasional abnormalities include microcephaly, central nervous system defects including agenesis of corpus callosum and absence of septum pellucidum, cardiac defects, diaphragmatic hernia. Death occurred in the first year of life in two children, presumably secondary to cardiac arrhythmias.

Ocular Findings

Common: microphthalmia, sclerocornea

Less common: anterior chamber defects, cataract, iris coloboma, pigmentary retinopathy, orbital cysts

Miller Syndrome Genee–Wiedemann Syndrome, Postaxial Acrofacial Dysostosis

MIM *263750 Inheritance: autosomal recessive. Over 24 cases reported.

General Description: Treacher Collins-like facies, hypoplasia or aplasia of the fifth digital ray, abnormalities may extend to the radius and ulna, which can be shortened or even fused

Ocular Findings (as in Treacher Collins syndrome)

Common: lack of lateral canthal fixation causing drooping of the lower eyelid in an S-shaped contour. Colobomas or pseudocolobomas of the lateral third of the lower eyelid (75%). The medial part of the lower eyelid may be thin, absent of tarsal plate, and devoid of all marginal structures, including eyelashes and

TABLE 10-2. (continued).

meibomian glands (50%). “Egg-shaped” orbit caused by deformities of the temporal orbital wall. The relative protrusion of the nose may produce an enophthalmic appearance.

Less common: atresia of the lower lacrimal punctum and canaliculus, ptosis, distichiasis, trichiasis, ectropion, entropion, upper eyelid coloboma, microphthalmia, anophthalmos, pupillary ectopia, iris coloboma, cataract, corneal guttae

Miller–Dieker Lissencephaly Syndrome MIM #247200 Gene map locus: 17p13.3. Inheritance: autosomal dominant. Approximately a dozen kinships as well as sporadic cases have been reported.

General Description: cerebral dysgenesis, absent or hypoplastic corpus callosum (74%), large cavum septi pellucidi (77%), type I lissencephaly (incomplete development of the brain, often with a smooth surface, thickened cortex with four rather than six cell layers), infantile spasms. Characteristic craniofacial features: microcephaly with bitemporal narrowing. Variable high forehead, and vertical forehead, soft tissue ridging and furrowing, especially when crying. Small nose with anteverted nostrils, protuberant upper lip, thin vermilion border of upper lip, and micrognathia. Appearance of “low-set” and/or posteriorly angulated auricles. Death usually occurs before 2 years of age.

Ocular Findings

Common: up-slanting palpebral fissures

Less common: cataract

Möbius’ Syndrome I, II, III Facial Diplegia, Congenital MIM *157900, *601471, *604185 Gene map locus: 13q12.2–q13, 3q21–q22, 10q21.3–q22.1 Inheritance: autosomal dominant. Over 100 cases reported.

General Description: mask-like facies with sixth and seventh nerve palsy. Some patients have more extensive cranial nerve involvement, including the third, fourth, fifth, eighth, ninth, tenth, and twelfth nerves. Patients with Möbius’ syndrome usually present with congenital deafness, nonprogressive facial paralysis, and inability to abduct the eyes beyond the midline. About 15% have mental deficiency. Non-CNS defects may include limb reduction defects, syndactyly, the Poland sequence, and, occasionally, the Klippel–Feil anomaly.

Ocular Findings: sixth (causing inability to abduct the eyes beyond the midline) and seventh nerve palsy, variable fifth nerve palsy, absent blink reflex in type 2. On forced abduction, pupils usually become miotic, indicating that convergence is substituting for abduction. Bell’s phenomenon is not usually present, predisposing the patient to exposure keratophathy during sleep.

Mohr Syndrome OFD Syndrome Type II MIM *252100 Inheritance: autosomal recessive. Approximately 25 cases reported.

General Description: short stature, cerebellar atrophy, midline partial cleft of lip, cleft palate, cleft tongue, papilliform tongue protuberances, hypoplasia of zygomatic arch, maxilla, and body of mandible, conductive hearing loss, partial reduplication of hallux and first metatarsal, polydactyly, syndactyly

Ocular Findings: lateral displacement of inner canthi

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

Morquio Syndrome Mucopolysaccharidosis Type IV Subtypes A and B MIM *253000, #253010 Gene map locus: Type A, 16q24.3. Inheritance: autosomal recessive. Incidence: probably less than 1:100,000.

General Description: keratan sulfate degradation is abnormal. Two subtypes: A (more severe type), N-acetylgalactosamine-6-sulfatase deficiency, subtype B (milder type), beta-galactosidase deficiency. The distinctive feature in this disorder is the skeletal dysplasia. Onset at 1 to 3 years of age, severe limitation of growth, marked vertebral defects, instability of the first cervical articulation can lead to life-threatening subluxation, severe kyphosis and knock-knees, mild coarsening of facial features, late onset of aortic regurgitation, hearing loss, hepatomegaly, inguinal hernia, widely spaced teeth with thin enamel that tends to become grayish, normal intelligence.

Ocular Findings: corneal stromal clouding (mild, fine haze), evident usually after 5 to 10 years of age. Rare: retinal pigmentary changes, glaucoma, optic atrophy.

Mucolipidosis Type I Subtypes I, II Dysmorphic Sialidosis Syndrome, Sialidosis Syndrome Type II, Spranger’s Syndrome MIM *256550 Gene map locus: 6p21.3. Inheritance: autosomal recessive. Approximately 20 cases reported.

General Description: deficiency of glycoprotein sialidase (alpha-N-acetyl- neuroaminidase). Myoclonus, gait abnormalities, dysmorphic Hurler-like facies (prominent brow, hypertrichosis, frontal bossing, and saddle nose), organomegaly, mental retardation, dysostosis multiplex, sensorineural hearing loss, and progressive neurological decline. Most patients do not survive past adolescence or early adulthood. Subtype II has an infantile onset and is more severe.

Ocular Findings: macular cherry-red spot with or without optic atrophy and decreased visual acuity, nystagmus, spokelike lenticular opacities, tortuous retinal and conjunctival vessels, pigmentary degeneration of the retina, fine corneal epithelial and stromal opacities (can occur but do not typically produce significant corneal clouding)

Mucolipidosis Type II Leroy I-Cell Syndrome MIM *252500 Gene map locus: 4q21–q23. Inheritance: autosomal recessive. Incidence: undetermined.

General Description: abnormality of N-acetylglucosamine phosphotransferase. Marked, early-onset growth deficiency and developmental deficiency, Hurlertype phenotype, coarse facies, progressive early alveolar ridge hypertrophy, high narrow forehead, low nasal bridge, anteverted nostrils, long philtrum, gingival hyperplasia, short neck, moderate joint limitation, kyphosis, thick tight skin during early infancy, cavernous skin hemangiomas, minimal hepatomegaly, valvular heart disease, hearing loss. Death usually occurs by 5 years of age from pneumonia or congestive heart failure. Caused by failure of incorporation of acid hydrolase into lysosomes (see pseudo-Hurler polydystrophy syndrome).

Ocular Findings: hypoplastic orbits with hypoplasia of the supraorbital ridges and prominence of the globes, thin eyebrows, puffy eyelids, inner epicanthal folds, cavernous skin hemangiomas. Corneal clouding (the cornea usually remains clear in early life, but approximately 40% of patients later develop abnormal stromal granularity and mild opacity). Glaucoma and megalocornea have been reported. Normal funduscopic examination.