Phenotypic heterogeneity in family members of patients with retinitis pigmentosa.

Purpose: To describe the phenotypic variations in family members of patients with retinitis pigmentosa (RP) with different modes of inheritance and to assess the ocular abnormalities in RP families. Methods: A descriptive analysis of three types of inheritance of RP was carried out, where 64 family members were examined at a tertiary eye care center, South India. They underwent comprehensive eye examination, fundus photography, fundus autofluorescence (FAF), full-field electroretinogram (FFERG), and spectral domain optical coherence tomography (SD-OCT). Analysis was performed between mild and severe forms of abnormalities to delineate retinal structural and functional defects in RP families. Results: The mean age was 38.55 ± 17.95 years. Males were 48.4%. In autosomal recessive and X-linked recessive groups, 74.2% and 77.3%, respectively, were asymptomatic, whereas in autosomal dominant group, 27.3% were asymptomatic. The proportion of the cases with abnormalities in all three groups was higher on ERG (59.6%), followed by OCT (57.5%), visual acuity (43.7%), peripheral FAF (23.5%), and macular FAF (11.8%). However, these abnormalities and the clinical pictures of the family members had no statistical difference across the three groups of inheritance. Conclusion: Structural and functional retinal alterations were noted in four out of five asymptomatic members, suggesting the need for careful screening of RP families and the pressing need for pre-test (genetic) counseling.

Morphological and Functional Correlates in Goldmann-Favre Syndrome: A Case Series

The purpose of this study is to describe the correlation of findings between results from spectral domain optical coherence tomography (SD-OCT) and microperimetry in a case series regarding patients with Goldmann-Favre syndrome. Goldmann-Favre syndrome is a rare autosomal recessive hereditary vitreo-retinal degeneration that impacts the functionality of vision in subjects. Three men with this condition were assessed and subjected to microperimetry and SD-OCT. Two of the men were brothers. This study finds that the retinoschisis and macular cystoid changes noted in the SD-OCT matched the scotomas revealed by the microperimetry. The findings of each of the individual cases are reported herein.

Intraocular Pressure and Its Determinants in Subjects With Type 2 Diabetes Mellitus in India / 예방의학회지

OBJECTIVES: This study was conducted to show the intraocular pressure (IOP) distribution and the factors affecting IOP in subjects with type 2 diabetes mellitus (DM) in India. METHODS: We measured the anthropometric and biochemical parameters for confirmed type 2 DM patients. A comprehensive ocular examination was performed for 1377 subjects aged > 40 years and residing in Chennai. RESULTS: A significant difference in IOP (mean +/- standard deviation) was found between men and women (14.6+/-2.9 and 15.0+/-2.8 mmHg, p = 0.005). A significantly elevated IOP was observed among smokers, subjects with systemic hypertension and women with clinically significant macular edema (CSME). After a univariate analysis, factors associated significantly with higher IOP were elevated systolic blood pressure, elevated resting pulse rate and thicker central corneal thickness (CCT). In women, elevated glycosylated hemoglobin was associated with a higher IOP. After adjusting for all variables, the elevated resting pulse rate and CCT were found to be associated with a higher IOP. CONCLUSIONS: Systemic hypertension, smoking, pulse rate and CCT were associated with elevated intraocular pressure in type 2 DM. Women with type 2 DM, especially those with CSME, were more prone to have an elevated IOP.

Effect of Illumination on Colour Vision Testing with Farnsworth-Munsell 100 Hue Test: Customized Colour Vision Booth versus Room Illumination

PURPOSE: To evaluate a customized, portable Farnsworth-Munsell 100 (FM 100) hue viewing booth for compliance with colour vision testing standards and to compare it with room illumination in subjects with normal colour vision (trichromats), subjects with acquired colour vision defects (secondary to diabetes mellitus), and subjects with congenital colour vision defects (dichromats). METHODS: Discrete wavelengths of the tube in the customized booth were measured using a spectrometer using the normal incident method and were compared with the spectral distribution of sunlight. Forty-eight subjects were recruited for the study and were divided into 3 groups: Group 1, Normal Trichromats (30 eyes); Group 2, Congenital Colour Vision Defects (16 eyes); and Group 3, Diabetes Mellitus (20 eyes). The FM 100 hue test performance was compared using two illumination conditions, booth illumination and room illumination. RESULTS: Total error scores of the classical method in Group 2 as mean+/-SD for room and booth illumination was 243.05+/-85.96 and 149.85+/-54.50 respectively (p=0.0001). Group 2 demonstrated lesser correlation (r=0.50, 0.55), lesser reliability (Cronbach's alpha, 0.625, 0.662) and greater variability (Bland & Altman value, 10.5) in total error scores for the classical method and the moment of inertia method between the two illumination conditions when compared to the other two groups. CONCLUSIONS: The customized booth demonstrated illumination meeting CIE standards. The total error scores were overestimated by the classical and moment of inertia methods in all groups for room illumination compared with booth illumination, however overestimation was more significant in the diabetes group.

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>