Cataract extraction in eyes with congenital colobomata

Cataract extraction in eyes with congenital colobomata Norman S. Jaffe, M.D. Henry M. Clayman, M.D. North Miami Beach, Florida

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cases, instruments and notes

Few reports of cataract surgery in eyes with congenital colobomata of the iris, choroid, and retina have appeared in the scientific literature. In 1953, Krejca 1 described an extracapsular cataract extraction in a 65year-old woman with congenital colobomata of the iris, choroid, and retina. A sector iridectomy was performed above, connecting with the inferior iris coloboma. There was considerable loss of fluid vitreous. Final visual acuity was 20170. In 1961, Jesberg and Schepens 2 reported surgery in ten eyes, seven for From the Bascom Palmer Eye Illstitute. Ul1i(;ersity of Miami School of Medicine, Miami. Florida Supported by the Miami Eye Foulldation. 1680 Michigan Acel1ue, "..1iami Beach. Florida. Presellted at the Symposium on Cataract, IOL and Refractil'e Surgery. Los Angeles, April 1986. Figures 1. 2. and.3 m'e reproduced lcith permission from Intraocular Lens Implantation; Techniques and Complications, St. Louis, C. V. Mosby Co., 198.3. Figures..J (left) alld 5 lire reproduced tcith permission from A Surgeon's Guide to Intraocular Lens Implantation. Thorofare, N.j., Slack, IIlC., 1985. Reprint requests to Norman S. Jaffe, hI. D., 16400 NW 2nd Arenue, North 2\1iami Beach, Florida .3.3169.

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retinal detachment, two for cataract, and one for glaucoma. No details of the cataract surgery were presented. They emphasized the poor results of surgery in these eyes, the outcome being unfavorable in six eyes (four developed phthisis bulbi). In 1968, Nixseaman3 described an intracapsular cataract extraction performed from below through the coloboma. The author stated that this had not been previously reported. In 1981, Vaughan and Schepens4 reported an uncomplicated intracapsular cataract extraction without an intraocular lens. The coloboma did not include the macula or disc and the visual result was good. This paper describes our experience with surgery in six eyes of four patients with congenital colobomata of the iris, choroid, and retina. Surgeons have approached these cases with great caution because of the possibility of scleral weakness in the fetal ocular cleft region, zonular deficiency in this area, the frequency of retinal detachment, poor surgical results, 2 and the association of maculopathy and amblyopia.

in the right eye. She could never read with that eye but vision had decreased greatly over the past several years. Visual acuity in the right eye was hand motion. Refraction in the left eye was -l.00 + l.50 X 15 = 20/50. Intraocular pressures were 20 mm Hg in the right eye and 18 mm Hg in the left. Biomicroscopic examination revealed 4+ nuclear sclerosis in the right eye and 2+ in the left eye. A congenital inferior iris coloboma was present in the right eye (Figure 1). The fundus could not be visualized in the right eye but was normal in the left eye. B-scan ultrasonography appeared normal in the right eye. On March 11, 1980, a right intracapsular cataract extraction was performed including a superior radial iridotomy connected to the inferior iris coloboma (Figure 2). The fundus could be visualized for the first time and revealed congenital colobomata of the choroid and retina (Figure 3). On January 9, 1981, a left planned extracapsular cataract

SUBJECTS AND METHODS The four subjects in this study are described in Table 1. One patient had typical bilateral iris colobomata. The remaining three patients had typical colobomata of the iris, choroid, and retina, one unilateral and two bilateral. Cataract surgery was performed in six of the seven involved eyes. One eye of a patient with unilateral colobomata of the iris, choroid, and retina had an intracapsular cataract extraction with contact lens correction of the aphakia. Phacoemulsification with posterior chamber lens implantation in the capsular bag was performed in the remaining four eyes. Table 1. Patient population. Patients

Coloboma

Surgery

E.S.

Iris, choroid, retina, unilateral

ICCE

A.N.

Iris, choroid, retina, bilateral

Phaco/PCL

C.C.

Iris, bilateral

Phaco/PCL, bilateral

M.B.

Iris, choroid, retina, bilateral

Phaco/PCL, bilateral

Fig.

1.

(Jaffe) Patient E.S.: Congenital iris coloboma in the right eye.

Fig. 2.

(Jaffe) Postoperative appearance of eye in Figure 1 following an intracapsular cataract extraction with a superior iridectomy (small arrow) made continuous with the congenital iris coloboma (large arrow).

ICCE = intracapsular cataract extraction Phaco = phacoemulsification PCL = posterior chamber lens

There were no surgical complications. The zonule inferiorly behaved normally both during the anterior capsulectomy and the placement of the intraocular lens in the capsular bag. However, no conclusions should be drawn from this small series since it is logical to assume that extensive defects in the zonule and lens may be present.

Case Reports E.S., a 67-year-old female had a history of amblyopia

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Fig. 3.

(Jaffe) Fundus photograph of eye in Figure 1 showing congenital coloboma of choroid and retina.

extraction with the implantation of a 2l.0 diopter (D) Sinskey posterior chamber lens was performed. On October 29, 1985, refraction and visual acuity were + 13.50 -2.00 X 110 = 20170 in the right eye and + l.00 -2.00 X 45 = 20/20 in the left. This was 67 months postoperative for the right eye and 58 months for the left eye. The patient had used a hard contact lens in the right eye since the surgery. A.N., a 48-year-old male, was examined on November 19,1983. Refraction and visual acuity were plano = 20/400 in the right eye and +0.25 -l.00 X 110 = 20/20 in the left. Intraocular pressures were 13 mm Hg (right eye) and 14 mm Hg (left eye). The patient had a history of a rapid vision decrease during the preceding four months. Biomicroscopic examination revealed a dense nuclear sclerosis with cortical changes in the right eye and 2+ nuclear sclerosis in the left eye. There were bilateral colobomata of the iris, choroid, and retina (Figure 4). On January 11, 1984, a right phacoemulsification with implantation of a 17.0 D Clayman posterior chamber lens was performed (Figure 5).

Fig. 4. 56

Fig. 5.

(Jaffe) Postoperative appearance of eye in Figure 4 (left). Phacoemulsification with implantation of a Clayman posterior chamber lens was performed.

On December 13, 1984, refraction and visual acuity were -0.75 -l.00 X 15 = 20/20. G.G., a 72-year-old female, was examined on March 21, 1985. Refraction and visual acuity were +0.50 -l.50 X 150 = 20/50-2 in the right eye and +4.00 -3.00 X 20 = 20/50 in the left, which was amblyopic. Axial lengths were 23.06 mm (right eye) and 22.36 mm (left eye). Intraocular pressures were 18 mm Hg (right) and 15 mm Hg (left). The average corneal dioptric powers were 43.25 right and 42.25 left. There were bilateral inferior iris colobomata (Figure 6). The fundi appeared normal. On April 30, 1985, a right phacoemulsification with implantation of a 20.0 D Clayman posterior chamber lens was performed. The posterior capsule clouded rapidly and a YAG laser posterior capsulectomy was performed on August 23, 1985 (Figure 7). Four days later refraction and visual acuity were +0.50 -l. 75 X 150 = 20/20. On February 26, 1986, a left phacoemulsification with implantation of a 22.5 D Clayman posterior chamber lens was performed. On April 2, 1986, refraction and visual

(Jaffe) Patient A.N.: Congenital iris coloboma in the right eye (left); congenital iris coloboma in the left eye (right). J CATARACT REFRACT SURG-VOL 13, JANUARY 1987

Fig. 6.

(Jaffe) Patient G.G.: Congenital iris coloboma in the right eye (left); congenital iris coloboma in the left eye (right).

Fig.

Gaffe) Postoperative appearance of eye in Figure 6 (left) following phacoemulsification with implantation of a Clayman posterior chamber lens and a later YAG laser posterior capsulectomy.

7.

acuity were + 1.25 -1.00 X 170 = 20/30. M.B., a 49-year-old female, was examined on August 14, 1985. She had a history of strabismus and amblyopia in the left eye. The right eye never had 20/20 visual acuity. Refraction and visual acuity were +5.50 -1. 75 X 135 = 20170 in the right eye and plano = finger counting at three feet in the left eye. Intraocular pressures were 24 mm Hg (right eye) and 20 mm Hg (left eye). Axial lengths were 21.13 mm (right) and 23.46 mm (left). Biomicroscopic examination revealed bilateral colobomata of the iris, choroid, and retina (Figures 8 and 9). There was 2+ nuclear sclerosis in the right eye and 3+ nuclear sclerosis in the left eye. On August 15, 1985, a right phacoemulsification with implantation of a 24.0 D Jaffe posterior chamber lens was performed and on October 22,1985, a left phacoemulsification with implantation of a 16.5 D Jaffe posterior chamber lens was performed. Refraction and visual acuity were + 1.25 -1.25 X 160 = 20/25- in the right eye and plano = finger counting at eight feet in the left eye (Figure 10).

Fig.

8.

(Jaffe) Patient M.B.: Incomplete congenital iris coloboma in the right eye. Note small coloboma (arrow) separated from larger coloboma.

Fig.

9.

Gaffe) Same eye as in Figure 8. Fundus photograph showing congenital coloboma of choroid and retina.

RESULTS There were no surgical complications and no complications were encountered in the postoperative periods. All four posterior chamber lens implantations used

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Fig. 10.

(Jaffe) Postoperative appearance of eye in Figure 8. Phacoemulsification with implantation of a Jaffe posterior chamber lens was performed. Note lower edge of capsular bag (arrow). The anterior surface of the implant, posterior surface of the implant, and the posterior capsule (left to right) are seen in the pupil.

capsular bag fixation. The postoperative visual acuities in these were 20/20, 20/20, 20/25, finger counting (amblyopia). The one intracapsular case had 20170 (amblyopia) with a hard contact lens.

DISCUSSION The term coloboma is used in ophthalmology to express a notch, gap, hole, or fissure in any of the ocular structures, whether congenital or acquired. Typical colobomata are those in which the defects lie in or near any part or the whole of the line of the fetal ocular cleft. They run downward and slightly inward around the eye from the center of the optic disc to the pupillary margin, slightly to the nasal side of the center of the lower border of the pupil. Wide variations appear. The defect may include the retina and choroid above the optic disc or it may end below the disc. The defect may involve only the more anterior portion of the cleft including the iris, zonule, ciliary body, and lower pole of the lens. Typical colobomata occur between the time of invagination of the optic vesicle and closure of the fetal cleft; that is, between the 7 mm and 14 mm stage of development (fourth to fifth week of gestation). They may be complete, implicating all the structures associated with the fetal cleft, or partial, when the defect is less extensive. The term thus includes a whole series of anomalies varying from a complete defect involving the optic disc, choroid and retina, ciliary body, zonule, and even the lens, associated in the more extreme cases with the formation of cysts arising from the lips of the cleft, to a localized and partial failure of closure of which evidence may be minimal. The latter includes a small notch at the pupillary margin, a slight hypoplasia of iris mesoderm, a linear area of anomalous pigmenta58

tion in the fundus, or an exaggerated excavation of the optic disc. Maldevelopment of the zonule is often related to a defect in the ciliary portion of the optic vesicle from which it is formed. However, it is frequently found in other positions and is unrelated to the fetal cleft. Persistent pupillary membrane is occasionally seen. The sclera is usually thinned in the ectatic area but this varies in degree. The retina over the choroid likewise varies in its involvement. It usually retains some function. Therefore, the scotoma is relatively small compared to what one would expect from the ophthalmoscopic appearance. Most commonly the retina and choroid are blended in a relatively undifferentiated and attenuated sheet (intercalary membrane).5 Typical colobomata are bilateral in more than 60% of cases and there is no sex predilection. The visual acuity is frequently diminished, although in most cases the macula is normal ophthalmoscopically, while strabismus and nystagmus are common. It is generally accepted that typical colobomata are due to some interference with the normal closure of the fetal cleft, the aberration lying primarily in the epiblast of the optic cup. The ultimate cause is undoubtedly genetic, numerous pedigrees having been reported. The transmission is irregularly dominant, the gene varying considerably in its penetrance so that sometimes one or more generations are missed. It also varies in its expressivity so that in the same pedigrees different degrees of coloboma occur as well as other microphthalmic defects. Altogether the published cases show a penetrance of 20% to 30%. The coloboma is essentially the hallmark of a maldeveloped eye. 5 As stated, this series is too small to draw firm conclusions. Cataract surgery may be successfully performed in selected cases using contemporary methods. These appear to have improved the surgical prognosis, compared to previous reports in the literature. REFERENCES 1. Gamble RC: Report of the Chicago Ophthalmological Society meeting, December 21, 1953. Am] Ophthalmol 39:586-588, 1955 2. Jesberg DO, Schepens CL: Retinal detachment associated with coloboma of the choroid. Arch Ophthalmol 65:163-173, 1961 3. Nixseaman DH: Cataract extraction in a case of congenital coloboma of the iris. BrJ Ophthalmol 52:625-627, 1968 4. Vaughn LW, Schepens CL: Progressive lenticular astigmatism associated with nuclear sclerosis and coloboma of the iris, lens, and choroid: Case report. Ann Ophthalmol13:25-27, 1981 5. Duke-Elder S, ed, System of Ophthalmology. Vol 3: Normal and Abnormal Development, Part 2: Congenital Deformities. St Louis, CV Mosby Co, 1964, pp 456-481

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