Background: Do gender, age, body mass and height influence eye biometrical properties in young adults? Methods: A total of 155 eyes (92 female, 63 male) of healthy subjects between the ages of 18 and 39 years were included in the study. The subjects’ gender and age were recorded, and their body mass, height and biometrical properties of the eyes were measured. Results: The male subjects had significantly thicker and flatter corneas and lower minimal rim-to-disk ratios than the female subjects did. In both genders, age showed strong, negative correlations with anterior chamber depth and pupil diameter and a positive correlation with lens thickness. We also found significant, negative correlations between body height and mass with keratometry measurements, negative correlations between body height and optic disk rim area and rim volume, and positive correlations between body mass and axial length in both genders. Conclusions: Biometric eye parameters differ among people. In addition to age and gender, which are usually taken into consideration when interpreting ocular biometry findings, we strongly suggest that body height and mass should be also routinely considered when interpreting eye biometry data, as these factors have an impact on ocular biometry.

Precise genetic diagnosis in RPE65-mediated retinitis pigmentosa (RP) is necessary to establish eligibility for genetic treatment with voretigene neparvovec: a recombinant adeno-associated viral vector providing a functional RPE65 gene. This case report aims to report a novel RP-related point mutation RPE65 c.353G>A, p.(Arg118Lys), a variant of uncertain significance associated with a severe clinical presentation and the striking phenotypic feature of complete macular atrophy. We report the case of a 40-year-old male with inherited retinal dystrophy, all features typical for the RPE65-associated RP, and marked macular atrophy. Genetic testing identified that the patient was a compound heterozygote in trans form with two heterozygous variants: RPE65 c.499G>T, p.(Asp167Tyr) and RPE65 c.353G>A, p.(Arg118Lys). Furthermore, short-wavelength and near-infrared autofluorescence patterns exhibited deficiencies specific to mutations in the visual cycle genes. To the best of our knowledge, RPE65 c.353G>A, p.(Arg118Lys) is the first described point mutation on this locus, among all other reported insertional mutations, currently classified as likely benign and of uncertain significance. We concluded that this variant contributed to the pathological phenotype, demonstrating its significance clearly to be reclassified as likely pathogenic. This being the case, patients with this specific variant in homozygous or compound heterozygous form would be likely candidates for genetic treatment with voretigene neparvovec.

The aim of the study was to assess biometric factor aberrations and differences among groups of eyes with cataract and pseudoexfoliative syndrome, cataract and pseudoexfoliative glaucoma, and cataract and primary open-angle glaucoma...