ABSTRACT
BACKGROUND: Stickler syndrome is a progressive autosomal-dominant connective tissue disorder with numerous ocular and systemic manifestations. Ocular abnormalities include: retinal detachment, glaucoma, premature cataracts, high myopia, optically empty vitreous cavities, and retinal pigmentary changes. Systemic signs include premature osteoarthritis and hearing loss, as well as numerous skeletal and facial malformations, such as maxillofacial hypoplasia and cleft palate. While many affected patients are diagnosed as children who exhibit obvious skeletal abnormalities, diagnosis can be delayed due to variable expressivity. In some cases, systemic problems may be mild or nonexistent. Thus, Stickler syndrome should be considered in the differential diagnosis of any patient who manifests a strong family history of premature cataracts, glaucoma, or retinal detachment. CASE REPORTS: Three patients representing three different generations within the same family manifested severe ocular manifestations of Stickler syndrome, and minimal systemic involvement: a 56-year-old woman, her 25-year-old son, and the first patient's 8-year-old grandson. CONCLUSIONS: Our cases highlight the need for appropriate vigilance in examining patients with a strong family history of common ocular disorders such as cataract, glaucoma, and retinal detachment. By recognizing the ocular and sometimes subtle systemic signs of Stickler syndrome, optometrists can play a vital role in limiting vision loss and improving the quality of life of affected patients and family members.
Subject(s)
Cataract/diagnosis , Connective Tissue Diseases/diagnosis , Myopia/diagnosis , Retinal Detachment/diagnosis , Vitreous Body/pathology , Adult , Cataract/genetics , Child , Connective Tissue Diseases/genetics , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Myopia/genetics , Retinal Detachment/genetics , Syndrome , Visual AcuityABSTRACT
The Brachmann-de Lange syndrome (BDLS) is a congenital abnormality of unknown etiology and variable expressivity, presenting with a characteristic facial appearance, external abnormalities, and clinical features. We report on the external and ocular findings in three cases of BDLS. We note ocular findings not previously seen in the disorder. A large hyperopic ametropia was found in two cases, and lenticular cataracts were noted in one case. Further case studies are necessary to determine if these conditions are consistent in the BDLS.
