BRIEF REPORTS

Long-term Follow-up of Ocular Findings in Children With Stickler's Syndrome Martin C. Wilson, MD, Donna M. McDonald-McGinn, MS, Graham E. Quinn, MD, Gary D. Markowitz, MD, Donato LaRossa, MD, Anca D. Pacuraru, DO, Xiaosong Zhu, MD, and Elaine H. Zackai, MD

PURPOSE: To document the longitudinal changes in eye status of children diagnosed with Stickler's syndrome in the first decade of life. METHOD: All patients with cleft palate were referred for eye examination. Of these, patients with systemic findings of Stickler's syndrome were included in this report. RESULTS: Thirty-four eyes in 17 patients met inclusion criteria, with median best-corrected rec­ognition acuity of 20/30. The mean cyclople-gic refraction at presentation was —5.00 diopters, and the mean refraction at last visit was —5.50 diopters. CONCLUSIONS: Refractive errors, cataracts, and vitreoretinal abnormalities can be detected early in life in patients with Stickler's syndrome, and refractive error changed little during the follow-up period.

I N 1965, STICKLER AND ASSOCIATES1 DESCRIBED THE

association of severe myopia and degenerative joint changes inherited in an autosomal dominant pattern in a five-generation family; an abnormality in type II collagen found in cartilage and vitreous is thought to

Accepted for publication June 27, 1996. Division of Ophthalmology (M.C.W., G.E.Q., G.D.M., X.Z., A.P.)

and Department of Genetics (D.M.M.-M., D.L., E.H.Z.), Children's Hospital of Philadelphia, Department of Genetics.

Inquiries to Martin C. Wilson, MD, Division of Ophthalmology, Wood Bldg 1st Fl, Children's Hospital of Philadelphia, 34th and Civic Ctr Blvd, Philadelphia, PA 19104-4399; fax (215) 5904325.

be responsible.2 The mechanism relating abnormal type II collagen and axial myopia and vitreoretinal degeneration remains unclear. The purpose of this study was to document the longitudinal changes in eye status of children diagnosed with Stickler's syn­drome in the first decade of life.

All patients with cleft palate seen in the Depart­ment of Genetics and the Cleft Palate Clinic were sent for eye examination in the Division of Ophthal­mology of the Children's Hospital of Philadelphia. Patients with associated skeletal findings of Stickler's syndrome who had an ophthalmic examination be­fore 10 years of age and at least 1 year of follow-up were included in the present series. Ophthalmology records were reviewed and the following data were collected: date of birth, initial and final visual acuity, initial and final cycloplegic refraction, and the pres­ence of lens or vitreoretinal changes.

Thirty-four eyes in 17 patients (eight male, nine female) met criteria for inclusion. Mean age at first examination was 1.5 years (range, newborn to 5.5 years), with a mean follow-up of 4.5 years (range, 1.1 to 14-8 years). Recognition acuity assessment was possible in 22 of 34 eyes at the final visit, with a median value of 20/30 (range, 20/20 to 20/400). The mean cycloplegic refraction (spherical equivalent) at presentation was —5.00 diopters (Figure 1); the mean refraction at last visit was —5.50 diopters. Refractive error was found to be stable over the interval of follow-up, regardless of initial refractive error (Figure 2) or age at presentation. Cataracts were noted in three eyes (two patients), perivascular pigmented retinopathy changes were noted in 10 eyes (five patients), and retinal detachment was present in one eye of one patient.

In 1965, Stickler and associates1 described a large kindred with myopia, cataracts, and perivascular pigmented retinopathy associated with retinal detach­ment and the systemic findings of cleft palate, flat midface, and spondyloepiphyseal dysplasia.

VOL. 122, No. 5 BRIEF REPORTS 727

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The expected progression of myopia did not occur in the present series of patients.3 The refractive error was remarkably stable in the patients in this report regardless of age at initial examination, initial refrac­tive error, age at first spectacle correction, or sex of the patient. The control of refractive growth in the normal human eye is complex and not fully under­stood, and patients with Stickler's syndrome represent a clear departure from the norm.

The present report differs from previous work regarding Stickler's syndrome because all patients were initially identified by the presence of cleft palate. Patients were then examined for the associated sys­temic and ocular findings of Stickler's syndrome. Previous reports in the ophthalmic literature have studied a subpopulation of patients with Stickler's syndrome defined by ocular findings.1,4 Five of the 17 patients reported here had no substantial refractive or ophthalmic abnormalities, and the long-term risk of retinal detachment in this group is not clear. It should be emphasized, however, that all patients with ocular abnormalities and cleft palate should be evaluated for Stickler's syndrome because of the high lifetime risk of associated retinal detachment in this subset of patients.4

Because of the potential sight-threatening compli­cations of Stickler's syndrome, it is important to identify affected patients at an early age and counsel the family accordingly. The current report suggests that substantial refractive errors, cataracts, and vitreo-retinal abnormalities can be detected early in life for

patients with Stickler's syndrome and that refractive error remained remarkably stable in the series of patients reported here.

REFERENCES

Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965;40:433-455. Francomano CA, Liberfarb RM, Hirose T, et al. The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. Genomics 1988;2:293-296. Gordon RA, Donzis PB. Refractive development of the human eye. Arch Ophthalmol 1985;103:785-792. Knobloch WH. Inherited hyaloideo-retinopathy and skeletal-dysplasia. Trans Am Ophthalmol Soc 1976;73:417-451.

Intraoperative Mitomycin C in the Treatment of Cicatricial Obliterations of Conjunctival Fornices Antonio G. Secchi, MD, and M. Sofia Tognon, MD

PURPOSE: To investigate whether the intraopera­tive use of topical mitomycin C improved the postoperative outcome in cases of cicatricial oblit­eration of conjunctival fornices. METHODS: Ten eyes of five patients were subject­ed to surgical lysis of the synechiae followed by intraoperative application of 0.4 mg mitomycin C per milliliter of saline for 3 to 5 minutes.

728 A M E R I C A N J O U R N A Ì O F O P H T H A Ì M O L O C Y NOVEMBER 1996