Prenatal genetic diagnosis of retinoblastoma--clinical correlates on follow-up.

Retinoblastoma is the most common malignant intraocular tumor in pediatric age group if undetected leads to ocular mortality. Prenatal diagnosis is an emerging technology to detect fatal diseases in utero such that subsequent management is planned to reduce the ocular morbidity. We describe a case demonstrating the importance of prenatal diagnosis in a child with a strong family history of retinoblastoma and importance of a long-term clinical follow-up in these cases.

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

PURPOSE: To screen for possible disease-causing mutations in rhodopsin (RHO), pre-mRNA processing factor 31 (PRPF31), retinitis pigmentosa 1 (RP1), and inosine monophosphate dehydrogenase 1 (IMPDH1) genes in Indian patients with isolated and autosomal dominant forms of retinitis pigmentosa (adRP). Information on such data is not available in India and hence this study was undertaken. METHODS: Blood samples were obtained from 48 isolated and 53 adRP patients, who were recruited for the study. Each patient underwent a detailed clinical examination. Genomic DNA was extracted from the blood samples and screened for mutations in four genes using an ABI3100 Avant genetic analyzer. Reverse transcriptase polymerase chain reaction was performed to amplify the mutated (IVS6+1G/A) mRNA of PRPF31 in a two-generation adRP family. RESULTS: Of the 101 probands analyzed, three harbored possible disease-causing mutations. Pathogenic changes were observed in RHO and PRPF31. A RHO mutation, p.Gly106Arg, was found in an isolated RP patient with sectoral RP. Two novel, heterozygous mutations were identified in PRPF31: p.Lys120GlufsX122 in an isolated RP patient and a splice site mutation, IVS6+1G/A in an adRP patient. However, no disease-causing changes were observed in RP1 and IMPDH1. CONCLUSIONS: We screened RHO, PRPF31, RP1, and IMPDH1 and identified causative mutations in 4% of isolated and 2% of adRP patients from India. To the best of our knowledge, this is the first report to identify frequencies of mutations in isolated and adRP patients in India.

Diabetic retinopathy in type II diabetics detected by targeted screening versus newly diagnosed in general practice

<p><b>INTRODUCTION</b>The aim of this study was to compare the occurrence of diabetic retinopathy in targeted screening diabetic patients (Group I) with newly diagnosed diabetic patients in general practice (Group II).</p><p><b>MATERIALS AND METHODS</b>This was an observational cross-sectional study. Data were obtained from 25,313 subjects who participated in the diabetic screening camps, and 128 newly diagnosed diabetes who presented to the diabetic retinopathy screening camps in general practice in rural and urban south India. The study variables were collected from all patients who underwent eye examination from the target screening detected diabetics [(n = 173) Group I] and those newly diagnosed in general practice [(n = 128) Group II]. The variations in prevalence of diabetic retinopathy and sight-threatening diabetic retinopathy in Group I and Group II and the factors affecting it were identified.</p><p><b>RESULTS</b>The occurrence of diabetic retinopathy was 6.35% (95% CI, 2.5-9.5) in Group I and 11.71% (95% CI, 5.6-16.4) in Group II. No significant difference was observed on occurrence of diabetic retinopathy, including sightthreatening retinopathy, in rural versus urban population and in Group I versus Group II. Patients diagnosed in general practice (Group II) with systolic blood pressure (BP) >140 were more likely to have retinopathy (P = 0.02).</p><p><b>CONCLUSIONS</b>Diabetic retinopathy including sightthreatening complications was found at the time of diagnosis of diabetes in the targeted screening group as well as in newly diagnosed diabetics in the general practice group.</p>