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 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.

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.

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.

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.