GAPO syndrome: a novel variant in ANTXR1 gene.

BACKGROUND: GAPO syndrome is a rare autosomal recessive disorder characterized by the acronym of growth retardation, alopecia, pseudo-anodontia and progressive optic atrophy. While the genetic alteration of the ANTXR1 gene has been known for its cause, the full range of its clinical and genetic manifestations is not well explored due to the syndrome's extreme rarity. MATERIALS/METHODS: We report two children born to a non-consanguineous parent in India with classical features of GAPO syndrome. The whole exome sequencing analysis (WES) was performed in both siblings, and the parent's genetic and clinical status was determined. The identified variation was characterized in silico using homology-based protein modelling. RESULTS: In WES analysis, a homozygous ANTXR1 gene indel variant c. 151_152 + 2delAAGT (p.Lys51fs) was identified in both siblings. The parents were identified as the carriers of the ANTXR1 variant. Additionally, they also displayed mild GAPO-related facial and glaucomatous features. In silico analysis and homology-based ANTXR1 protein structure illustrate a frameshift and the subsequent premature truncation of the protein. CONCLUSIONS: Our reports contribute to the comprehension of GAPO syndrome within the Indian context describing an ANTXR1 novel variant causing premature protein truncation. WES-based genetic testing can significantly aid in expertly diagnosing GAPO syndrome. In the present case scenario, a variable penetrance of ANTXR1 variation was acknowledged as the carrier parents also had a mild degree of GAPO-related features. Future reports that include parental clinical diagnosis can offer further insights in this context.

Mapping the thickness of retinal layers using Spectralis spectral domain optical coherence tomography in Indian eyes.

Purpose: This study aimed at establishing the normative data for the thickness of macular layers on Spectralis Spectral-domain optical coherence tomography (SD-OCT) in healthy Indian eyes and testing the effects of age, gender, central corneal thickness (CCT), and intraocular pressure (IOP) on such values. Methods: This cross-sectional study was done on 308 eyes of 159 healthy subjects. OCT scans were obtained using the posterior pole asymmetry scan protocol. From the thickness map, data were grouped into nine Early Treatment Diabetic Retinopathy Study (ETDRS) macular sectors. Correlation between retinal thickness and age/IOP/CCT was done using Pearson correlation. Correcting for age as a covariate, multivariate regression analysis was done to know which retinal layers showed significant differences in thickness between males and females. Results: The mean age was 46.06 ± 13.06 years (range: 20-75 years). Significant central subfield (CSF) thickening with age was noted in retinal nerve fiber layer (RNFL), inner nuclear layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), and outer nuclear layer (ONL) (P < 0.04). The average thickness of the outer ring reduced with age in the ganglion cell layer (GCL)/IPL/INL (P = 0.001). Women had thinner inner and outer retinal thickness than men in all ETDRS rings (P < 0.001). There was no interocular asymmetry (P > 0.05) and no correlation between IOP/CCT and retinal layer thickness. Conclusion: In CSF, age-related thickening was noted in RNFL, IPL, INL, OPL, and ONL. The average inner ring thickness decreased with age in GCL and IPL and increased in the RPE layer. The average outer ring thickness decreased with age in GCL, IPL, and INL layers and increased in OPL. The average IR and OR thickness was significantly less in women compared to men in all sub-fields. There was no correlation between IOP/CCT and retinal layer thickness.

Knowledge of genetic eye diseases and genetic services and attitudes toward genetic testing and gene therapy.

PURPOSE: Genetic eye diseases are among the top ten causes of ocular health burden. Asia accounts for nearly two-thirds of the global burden of genetic eye diseases. A great deal of resources is being invested in genetic research and development of genetic services including gene testing laboratories and genetic counseling in India. These efforts will be meaningful only if the public and clinicians are aware of their existence. This study aimed to understand the level of knowledge about genetic eye diseases and genetic services and attitudes toward genetic testing and gene therapy in four groups of participants (undergraduate medical students, paramedical staff, non-ophthalmologist doctors, and the general public). MATERIALS AND METHODS: This was a cross-sectional survey in India. Four hundred questionnaires were analyzed from the four groups of participants. Knowledge score was calculated for the different questions. To bring out the differences across the groups, Chi-square test was done with a post hoc Mann-Whitney U-test and Kruskal-Wallis test. P < 0.05 was taken as statistically significant. RESULTS: The level of awareness about genetic eye diseases was better among undergraduate students, doctors, and paramedical staff compared to the general public (P < 0.001). The majority across all three groups had a positive attitude toward genetic testing and gene therapy. However, most of the participants across all groups were not aware of the genetic facilities available in our country. CONCLUSION: This study shows a positive attitude toward genetic medicine. However, there is a need to improve public awareness about genetic eye diseases and facilities available for genetic testing and gene therapy.

Ross Syndrome.

Ross syndrome is a rare disorder of thermoregulation and includes a triad of tonic pupil, anhidrosis/hypohidosis and areflexia. Here we describe one such case in a 40-year-old woman. A general awareness among physicians, dermatologists and ophthalmologists regarding this disease can alleviate unnecessary anxiety and avoid unnecessary investigations.