Ординатура / Офтальмология / Английские материалы / The Glaucomas Volume 1 Pediatric Glaucomas_Sampaolesi, Zarate_2009

Purscher, in correspondence to Busacca, presented a personal study on this matter in which he shows that the iris insertion is always on the internal face of the ciliary body, showing this histologically. Figure 20.4 shows the goniophotograph of a case of goniodysgenesis with a great atrophy of the iris and an apparent insertion of the iris at the level of the scleral spur.

Figure 20.5 shows a goniophotograph of pigmentary glaucoma (late congenital glaucoma, or goniodysgenesis) and apparent high insertion of the iris at the spur.

In 2000, Prof. Balder Gloor’s team [3] wrote a very important paper on dysgenetic chamber alterations in patients with glaucoma or suspect glaucoma before 40 years of age. They used 200 eyes of 104 patients who had been examined but were now reexamined and photographed with Roussell and Fankhauser’s CGA-1 gonioscopic lens. In 24 of these 200 eyes (12%), slight goniodysgenesis was found, in 81 eyes (40.5%) intermediate goniodysgenesis, and in 49 eyes (24.5%) severe goniodysgenesis. On reexamination, the number

of dysgeneses increased from 48% to 78%. They concluded that the high frequency of dysgenetic changes in the chamber angle of glaucoma patients affected under the age of 40 suggests that in this age group developmental glaucoma is predominant and has to be separated as a special entity from POAG. Two questions arise: (1) were these dysgenetic changes overlooked most of the time in the newer genetic studies of patients with GLC1A? (2) If not, do patients suspected of having glaucoma and patients with open-angle glaucoma before the age of 40 with and without dysgenetic changes belong to groups with different glaucoma genes, those with dysgenetic changes belonging to genes IRID1 and IRID2 and those without belonging to genes GLC1A to GLC1F?

The following figures, reproduced with the permission of Prof. Gloor, show great similarity with those

that we reproduced on the pages above (Figs. 20.6, 20.7, 20.8).

When the diagnosis is goniodysgenesis, however slight it may be, it is important to investigate the presence of glaucoma thoroughly using all the corresponding studies. The presence of this phenotype in the angle suggests the existence of a glaucomatous genotype.

We studied 27 cases up to 1994 (the second edition of Sampaolesi 1994) and the most interesting will be presented here. We wish to emphasize that six of the 27 patients had pigmentary glaucoma. Of 46 cases, only 20 patients were 6–25 years of age; the others were adults.

We present two very interesting clinical cases: one is a 7-year-old child with late congenital glaucoma in whom I operated both eyes at the same time (see Chap. 17, clinical history no. 37). The second is a 45-year-old female, clinical history no. 5 below.

Clinical Cases

Late Congenital Glaucomas in Young People

Clinical history No. 1 was a 21-year-old female sent to us from the Clinical Medicine department to study her visual field, with a diagnosis of Turner syndrome; pterygium colli, amenorrhea, menstrual period presenting only after medical treatment at age 15, and remaining only if the treatment was not interrupted. The patient presented harmonious dwarfism, gonadal dysgenesis, infantilism (womb, labia minora, lack of hair in the pubis and armpits), as well as reddish chestnut color marks on the face and arms. The karyotype was XO.

Late Congenital Glaucomas in Adults

Clinical history No. 2 was a 49-year-old female who presented glaucoma in the right eye, diagnosed 3 years before as chronic congestive glaucoma. She was operated three times by other colleagues abroad. The first operation was an Elliot operation at 12 o’ clock with iridectomy in the sector. The second operation was an Elliot operation with lower basal iridectomy, and the third was a cyclodiathermy.

At the time of examination, the patient’s IOP had remained under control for 3 years, with a daily pressure curve in the right eye at a mean 15 mmHg, variability, 3 mmHg, and in the left eye at a mean 14 mmHg, variability, 0.5 mmHg. Tonographic values were normal.

Clinical history No. 3 was a 42-year-old female presented glaucoma in the left eye with lower nasal coloboma of the iris and posterior embryotoxon.

Clinical history No. 4 was another 42-year-old female. The patient presented a pigmentary retinopathy, albinism, and bilateral glaucoma.

Her 30-year-old sister accompanied the patient. Knowing the importance of the hereditary factor we examined her. She showed in both eyes a severe goniodysgenesis and an IOP of 35 mmHg and 28 mmHg, loss of visual field and it was necessary to perform Trabeculectomy in both eyes.

As we have just seen in the clinical histories presented, in many of the gonioscopies in the lower nasal zone, there was a peripheral depression of the iris with displacement of its root in the form of a hollow or depression. At other times, there were colobomas of the superficial layer of the iris or a change in iris color in the same place. These observations led us to investigate this sign, and that we call late congenital glaucoma with lower nasal malformation.

Clinical history No. 5 was a 45-year-old woman. This patient consulted at age 28 to see if she had glaucoma, because of the considerable family background she had (Fig. 20.9). Her grandfather was operated for glaucoma in both eyes and was left blind.

Figure 20.11, corresponding to the right eye, shows that the ON is in phase IV, the conventional visual field is normal, and the nonconventional visual field is in phase III. For ophthalmologists who think that glaucoma is an alteration of the ON and the visual field and who work with conventional perimetry, the diagnosis in this case is ocular hypertension. For those who work with nonconventional perimetry, the diagnosis is glaucoma, since the ON lesion topographically corresponds to the VF lesion made with nonconventional frequency doubling perimetry. Since this patient was on the maximum medication – prostaglandins, carbon anhydrase inhibitors, and beta blockers did not regulate IOP – we performed surgery: deep nonpenetrating sclerectomy and goniopuncture with Yag laser. The pressure regulated at 12 mmHg and the DTC was normal following surgery.

We stress here that this patient was on medication for 17 years while her ON and her VF were deteriorating. We believe that she will not have the same fate as her glaucomatous forebears.

Fig. 20.11 HRT and visual field of the right eye of the same patient. In the upper right part, the visual field with conventional perimetry Octopus is normal, meanwhile, in the lower part the non conventional perimetry double frequency at the

left, and Pulsar at the right, shows a severe visual field defect, topographicaly corresponding to the big lesion of the optic nerve show by the HRT

Figure 20.12, corresponds to the chamber angle of the left eye. Figure 20.13 shows that the ON of the left eye is in phase III, the conventional visual field is normal, and the nonconventional visual field is in phase III. For ophthalmologists who think that glaucoma is an alteration of the ON and of the visual field and who work with the conventional perimetry, the diagnosis in this case is ocular hypertension. For those who work with nonconventional perimetry, the diagnosis is glaucoma, since the ON lesion topographically corresponds to the VF lesion made with nonconventional frequency

doubling perimetry. Since this patient on the maximum medication – prostaglandins, carbon anhydrase (FDT and pulsar showed defects topographically corresponding to the lesion of the ON), inhibitors, and beta blockers did not regulate pressure – we performed surgery, as in the other eye, deep nonpenetrating sclerectomy and goniopuncture with Yag laser. The pressure regulated at 12 mmHg and the DTC was normal.

As with the other eye, this patient was on medication for 17 years while her ON and her VF were deteriorating.

Fig. 20.13 HRT and visual field of the left eye of the same patient. In the upper left part, the visual field with conventional perimetry Octopus is normal, meanwhile, in the lower part the non conventional perimetry double frequency at the left,

and Pulsar at the right, shows a severe visual field defect, topographicaly corresponding to the big lesion of the optic nerve show by the HRT

Late Congenital Glaucoma with

Lower Nasal Malformation

In our experience with glaucomas, we find cases that, despite presenting clinically as simple glaucomas, were actually late-onset congenital glaucomas. These were glaucomas whose etiology stemmed from an anomalous development of the chamber angle. We should classify them as true late congenital glaucomas. Studying the angle of the anterior chamber, particularly in all its circumference, a malformation involving both the iris wall and the scleral wall can be found by Sampaolesi (1962, 1968) [7, 8].

Topographically, this anomaly appears in the low nasal quadrant of the chamber angle. This constant location led us to relate this malformation to the fissure of the optic vesicle, as its closure occurs in this area. At this level, the iris shows a retrocession of its root, a surface depression, and an increase in the depth of the anterior chamber. This sign in itself already demonstrates goniodysgenesis and is accompanied by the features we described in slight or intermediate goniodysgenesis (Fig. 20.14).