Stickler syndrome is a well-described but uncommon clinical entity. It is a hereditary connective tissue disorder of fibrillar collagen with autosomal dominant inheritance. Phenotype manifests as four different features that is, ocular, orofacial, auditory, and musculoskeletal.
A 17-year-old male reported with gradual, progressive, painless diminution of vision in both eyes since 3 months. Family history was unremarkable. The best corrected visual acuity was the perception of light+ in right eye and 20/400 in the left eye. The anterior segment showed dense cataract in the right and posterior chamber intraocular lens in the left eye [Fig. 1]. Intraocular pressure was 4 mmHg in the right and 16 mmHg in the left eye. Left eye fundus revealed multiple radial perivascular lattices, vitreous condensation, tessellations, and posterior staphyloma [Fig. 2], and an axial length of 26.3 mm. The left eye was amblyopic. Ultrasound B-scan of the right eye revealed closed funnel retinal detachment (RD) and reduced axial length (21.2 mm) [Fig. 3]. Electroretinogram showed normal responses in the left and expected nonrecordable responses in the right eye [Fig. 4]. Systemic examination revealed speech abnormality (nasal twang), large cleft palate [Fig. 5], and mild hearing defect.
Stickler syndrome was first reported in 1965 by Stickler et al. as hereditary arthro-ophthalmopathy. It is now divided into subgroups depending on the clinical manifestations. Vitreous assessment is the diagnostic criteria  and guides to molecular genetic analysis. Complications such as RD (70%), cataract (49%), and ocular hypertension (10%) are progressive and can lead to blindness. A multidisciplinary approach is required. Ocular rehabilitation includes spectacles/contact lenses, frequent retinal examinations, cataract surgery, and prophylactic retinal laser photocoagulation. Meticulous systemic examination and genetic counseling help in identifying the disorder in newborns and preventing complications. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome, Types I to V. Our patient had characteristic features of Type I Stickler syndrome, such as cleft palate and hearing deficit, except a positive family history. Genetic testing was offered but declined by the patient. Differentials include multiple epiphyseal dysgenesis, Kniest dysplasia (musculoskeletal involvement), Knobloch (encephalocele), and Wagner syndrome (ocular involvement only).
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