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Abstract Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniques. All patients underwent complete clinical and instrumental assessment including structural Optical Coherence Tomography (OCT), OCT Angiography and Adaptive Optics (AO) imaging. Central macular thickness (CMT), inner nuclear layer (INL), vessel density in superficial capillary plexus were the main variables evaluated with OCT technology. Cone density, cone spacing, cone regularity, cone dispersion and angular density were the parameters evaluated with AO. Genetic evaluation and trio exome sequencing were performed in all affected individuals. Eight patients (3 males and 5 females) with a mean age of 12.62 years (range 8–18) were enrolled. The mean best corrected visual acuity (BCVA) was 0.18 ± 0.13 logMAR, mean CMT was 291.9 ± 16.6 µm and INL was 26.2 ± 4.6 µm. The absence of a foveal avascular zone (FAZ) was documented by examination of OCT-A in seven patients in the superficial capillary plexus. However, there was a partial FAZ in the deep plexus in patients P5 and P8. Of note, all the patients presented with major retinal vessels clearly crossing the foveal center. All individuals exhibited a grade I or II of foveal hypoplasia. In 5 patients molecular analyses showed an extremely mild form of albinism caused by compound heterozygosity of a TYR pathogenic variant and the hypomorphic p.[Ser192Tyr;Arg402Gln] haplotype. One patient had Waardenburg syndrome type 2A caused by a de novo variant in MITF. Two patients had inconclusive molecular analyses. All the patients displayed abnormalities on OCT-A. Photoreceptor count did not differ from normal subjects according to the current literature, but qualitative analysis of AO imaging showed distinctive features likely related to an abnormal pigment distribution in this subset of individuals. In patients with foveal hypoplasia, genetic and multimodal imaging data, including AO findings, can help understand the physiopathology of the foveal hypoplasia phenotype. This study confirms that cone density and visual function can both be preserved despite the absence of a pit.

Retinitis pigmentosa, defined more properly as cone–rod dystrophy, is a paradigm of inherited diffuse retinal dystrophies, one of the rare diseases with the highest prevalence in the worldwide population and one of the main causes of low vision in the pediatric and elderly age groups. Advancements in and the understanding of molecular biology and gene-editing technologies have raised interest in laying the foundation for new therapeutic strategies for rare diseases. As a consequence, new possibilities for clinicians and patients are arising due to the feasibility of treating such a devastating disorder, reducing its complications. The scope of this review focuses on the pathomolecular mechanisms underlying RP better to understand the prospects of its treatment using innovative approaches.

Abstract Background To compare the visual outcome and patients’ satisfaction after ultrathin Descemet stripping automated endothelial keratoplasty (UT-DSAEK) and Descemet membrane endothelial keratoplasty (DMEK) performed on fellow eyes of the same patients. Methods In this retrospective study, the records of 18 pseudophakic patients affected by Fuchs endothelial dystrophy who underwent DMEK in one eye and UT-DSAEK in the fellow eye were reviewed. Best corrected visual acuity (BCVA), corneal pachymetry, keratometry, corneal aberrations, photopic and mesopic contrast sensitivity, and endothelial cell counts measured 12 months after surgery in either eye were analyzed and compared. The results of a satisfaction questionnaire were also reviewed. Results Twelve months after surgery, BCVA was not significantly different in UT-DSAEK and DMEK eyes (0.10 ± 0.04 and 0.07 ± 0.07 logMAR, respectively); at both 4- and 6 mm optical zones total and posterior corneal higher order aberrations (HOAs), posterior astigmatism and total coma were significantly lower after DMEK; BCVA in both groups was significantly correlated mainly with anterior corneal aberrations; contrast sensitivity was higher after DMEK especially in mesopic conditions and at medium spatial frequencies; the endothelial cell density was similar, although slightly higher in the UT-DSAEK group (p = 0.10). The satisfaction questionnaire showed that although patients were highly satisfied from both procedures, more than half of them preferred DMEK and reported a more comfortable and quicker postoperative recovery. Conclusions DMEK and UT-DSAEK showed no evidence of difference in terms of postoperative BCVA, although DMEK had a better performance in terms of contrast sensitivity, posterior corneal aberrations and overall patient satisfaction.

We aimed to investigate the significance of optical coherence tomography (SD-OCT) in managing pediatric optic pathway gliomas (OPGs) in children younger than 5 years of age. A retrospective monocentric study was conducted. SD-OCT scans were obtained using the handheld iVue system to assess peripapillary retinal nerve fibre layer (pRNFL) thickness at three time points: baseline (OCT1), end of treatment (OCT2), and at last follow-up (OCT3). We compared the median value of pRNFL (and interquartile range—IQR) at different follow-up times and in different sub-groups (stable disease—SD, partial response—PR, and progression disease—PD). Thirteen children younger than 5 years of age were included. The Median follow-up time was 3.9 years (IQR 1.2). Six patients showed a pRNFL change of more than 10% during follow-up. Seven patients showed PD during follow-up. Median pRNFL at baseline was 81.5 µm (IQR 31.5); median pRNFL at the end of treatment was 73 µm (IQR 33); median pRNFL at last follow-up was 72 µm (IQR 38.5). The mean pRNFL at baseline was significantly lower than the mean normative values. Only subjects with PD showed pRNFL change close to statistical significance. This study confirms the role of SD-OCT in managing OPGs for therapeutic decisions and strategy planning of visual rehabilitation.

Inherited retinal dystrophies and retinal degenerations related to more common diseases (i.e., age-related macular dystrophy) are a major issue and one of the main causes of low vision in pediatric and elderly age groups. Advancement and understanding in molecular biology and the possibilities raised by gene-editing techniques opened a new era for clinicians and patients due to feasible possibilities of treating disabling diseases and the reduction in their complications burden. The scope of this review is to focus on the state-of-the-art in somatic cell therapy medicinal products as the basis of new insights and possibilities to use this approach to treat rare eye diseases.