Management of complicated proliferative diabetic retinopathy in a patient with oculocutaneous albinism.

Purpose: To describe the management and outcome of a patient with oculocutaneous albinism and complicated proliferative diabetic retinopathy, as well as to discuss treatment challenges and strategies in this patient population. Observation: A 52-year-old patient with oculocutaneous albinism and diabetes presented with light perception vision in her right eye and 20/300 vision in her left eye. Examination showed a diabetic tractional retinal detachment in the right eye and high-risk proliferative diabetic retinopathy (PDR) in the left eye. In the right eye, the patient underwent pars plana vitrectomy, membrane delamination, endolaser therapy, and silicone oil tamponade, with follow-up evaluations showing a flat retina under silicone oil with regressed retinopathy in this eye. In her left eye, pan-retinal photocoagulation was attempted without success, with persistent PDR and absence of laser marks in this eye. Subsequently, the patient underwent six intravitreal anti-VEGF injections, after which she developed a tractional retinal detachment necessitating treatment cessation and a planned surgical intervention. Conclusion and Importance: This case highlights the difficulty of using standard medical and surgical treatment strategies when caring for patients with oculocutaneous albinism and complicated proliferative diabetic retinopathy. If medical treatments fail in these patients, surgical approaches should be planned with extreme care due to the risks and challenges posed by hypopigmented fundi. Method: Interventional case report.

Mutations of the CYP1B1 gene in congenital anterior staphylomas.

PURPOSE: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. METHODS: We reviewed the medical records, including the genetic analysis. RESULTS: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. CONCLUSION: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.