Stickler syndrome: an underdiagnosed disease. Report of a family.

PURPOSE: To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome. METHODS: Case report. RESULTS: A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost perception of light and 1 eye was enucleated. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment (RRD). These tend to be complex and to occur at young age, frequently affecting both eyes. Other ocular features consist of high myopia, optically empty vitreous cavity, posterior radial paravascular lattice-type degeneration, cataract and glaucoma. Non-ocular findings include midface hypoplasia, musculoskeletal changes and hearing loss. In severe cases the disorder will readily be suspected. In mildly affected patients, clinical diagnosis can be quite difficult. Therefore, all family members of a Stickler patient should be offered molecular genetic testing. Stickler patients benefit from a multidisciplinary approach, including audiologic examination. They should be informed about the symptoms associated with retinal tears and retinal detachment and have priviliged access to the ophthalmic care unit. In case of RRD, vitrectomy is the preferred surgery. Prophylaxis of RRD in Stickler syndrome patients consisting of a 360 degrees peripheral cryotherapy or photocoagulation has been proposed. Practical guidelines for follow up or thresholds for initiating treatment have not been formulated. CONCLUSIONS: Stickler syndrome remains under-diagnosed. Hightened awareness of Stickler syndrome could improve visual outcome in affected individuals and makes genetic counseling possible

Clinical and genetic significance of unilateral Lisch nodules.

PURPOSE: Bilateral Lisch nodules are highly characteristic for neurofibromatosis type 1 (NF1). We wished to study the clinical and genetic implications of unilateral Lisch nodules. METHODS: Retrospective study of the clinical data of 59 patients who received genetic counselling for neurofibromatosis type 1 (NF1) or type 2 (NF2) and were examined at the department of ophthalmology. RESULTS: Unilateral Lisch nodules were observed in 4 cases: one child with NF1 initially presented unilateral Lisch nodules but developed bilateral Lisch nodules by the age of 9. In 2 cases segmental NF1 was the most probable diagnosis and in one case isolated Lisch nodules were observed. Of the 35 NF1 patients 28 ultimately developed bilateral Lisch nodules. Seven NF1 patients did not demonstrate the nodules. At follow-up no Lisch nodules were detected in 2 neurofibromatosis type 2 patients, in 4 patients in whom the diagnosis of NF1 remained doubtful and in 15 patients without NF1. CONCLUSION: Because isolated Lisch nodules are very rare, their presence warrants a thorough patient history and clinical examination to either confirm or exclude generalised or segmental neurofibromatosis type 1.

Bilateral blindness after starting highly active antiretroviral treatment in a patient with HIV infection and cryptococcal meningitis.

A 26-year-old HIV-seropositive Caucasian man with cryptococcal meningitis developed permanent bilateral blindness shortly after starting highly active antiretroviral treatment. The blindness may have been a consequence of an immune reactivation inflammatory syndrome caused by this treatment.