FAM161A mutations are the most common cause of autosomal recessive retinitis pigmentosa in the Israeli-Jewish population. We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features. We identified 114 bi-allelic FAM161A patients and obtained clinical records of 100 of these patients. The most frequent initial symptom was night blindness. Best-corrected visual acuity was largely preserved through the first three decades of life and severely deteriorated during the 4th–5th decades. Most patients manifest moderate-high myopia. Visual fields were markedly constricted from early ages, but maintained for decades. Bone spicule-like pigmentary changes appeared relatively late, accompanied by nummular pigmentation. Full-field electroretinography responses were usually non-detectable at first testing. Fundus autofluorescence showed a hyper-autofluorescent ring around the fovea in all patients already at young ages. Macular ocular coherence tomography showed relative preservation of the outer nuclear layer and ellipsoid zone in the fovea, and frank cystoid macular changes were very rare. Interestingly, patients with a homozygous nonsense mutation manifest somewhat more severe disease. Our clinical analysis is one of the largest ever reported for RP caused by a single gene allowing identification of characteristic clinical features and may be relevant for future application of novel therapies.

BackgroundTo determine the accuracy of the T2 formula as applied to highly myopic eyes, to compare the T2 formula to the SRK/T and Holladay 1 formulas, and to describe possible ways to improve the estimation of corneal height and prediction error in two settings, the Hadassah Hospital, Ophthalmology Department, Jerusalem, Israel and Clínica Barraquer, Bogotá, Colombia.MethodsIn this retrospective case series, optical biometer measurements were taken for 63 highly myopic patients (> 25 mm) undergoing uneventful crystalline lens phacoemulsification and insertion of an acrylic intraocular lens. Prediction errors were obtained, with estimations of ±0.50 D, ± 1.00 D, and greater than ±2.00 D. A method to improve the corneal height calculation is described.ResultsThe SRK/T formula (mean absolute error [MAE] = 0.418; median absolute error [MedAE] = 0.352) was the most accurate, followed by the T2 (MAE = 0.435; MedAE = 0.381) and Holladay 1 (MAE = 0.455; MedAE = 0.389) formulas. Both the SRK/T and T2 formulas overestimated corneal height, but values were higher with the T2 formula. Corneal height was more precisely estimated using an alternative method that, when combined with axial length optimization, resulted in lower MAE (0.425) and MedAE (0.365) values than when applying the T2 formula alone.ConclusionsThe T2 formula seems to be less accurate than the SRK/T formula in highly myopic eyes. An improved corneal height estimation method is described for the the T2 formula.