Our extended investigations prove that even among such a genetically homogenous group of patients, no specific correlations regarding function and morphology severity and age can be observed. Therefore, the therapeutic window seems to be wider than previously indicated.

Achromatopsia (ACHM) is a rare autosomal recessive inherited retinal disorder with an incidence of approximately 1 in 30,000. It presents at birth or early infancy and is typically characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. The symptoms arise from isolated cone dysfunction, which can be caused by mutations in the crucial components of the cone phototransduction cascade. Although ACHM is considered a functionally nonprogressive disease affecting only the cone system, recent studies have described progressive age-dependent changes in retinal architecture. Currently, no specific therapy is available for ACHM; however, gene replacement therapy performed on animal models for three ACHM genes has shown promising results. Accurate genetic and clinical diagnosis of patients may therefore enhance and enable therapeutic intervention in the near future. This short review summarizes the genetic background, pathophysiology, clinical findings, diagnostics, and therapeutic perspectives in ACHM.

OCMD phenotype showed consistent clinical findings including classical microstructural changes on SD-OCT. An important hallmark of RP1L1-related OCMD is the dominant family history with reduced penetrance. Furthermore, novel mutations in association with arRP were identified, outlining the complexity of the protein.

ABSTRACT.Purpose: Mutations in the RLBP1 gene encoding the cellular retinaldehydebinding protein (CRALBP) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), retinitis pigmentosa (RP) and fundus albipunctatus (FA). We present the clinical heterogeneity and genetic findings of seven patients from five families with RLBP1 mutations, including three novel mutations. Methods: Seven patients underwent complete ophthalmological examination including psychophysical tests (visual acuity, colour vision, visual field, dark adaptation) and electrophysiology (Ganzfeld and multifocal ERG). Additionally, fundus photography, autofluorescence (FAF) and spectral domain optical coherence tomography (OCT) recordings were performed. Genomic DNA was analysed by high-throughput sequencing for all RP-related genes in a diagnostic set-up. Results: The patients presented with variable phenotypes, including RPA, BD, RP and a mild form of NFRCD. No detectable or severely depressed responses in electrophysiological examinations were seen in all cases. Visual field constriction was variable among individuals. Severely reduced visual acuity was only observed in the patient presenting with BD. The other patients retained mild to moderate reduction of visual function. Despite the morphological differences, central retinal thinning -as a common feature -could be observed. Conclusions: The fact that different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein. Identifying new mutations and comparing the different phenotypes may help to better understand the function of the protein and the consequences in pathological changes that involve RPE and choroid.

Our findings suggest a direct effect of cannabinoids on the retina and retinal pigment epithelium function, which may be involved in disturbances of the visual function experienced after drug consumption. The observations presented here may contribute to the elucidation of the detailed mechanism. Furthermore, EOG and EPT measurements may be useful tools to demonstrate long-term retinal alterations in cannabis-induced HPPD in patients.

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<b><i>Introduction:</i></b> The aim of this study was to evaluate the relation between choroidal thickness (CT), central retinal thickness (CRT) and best-corrected visual acuity (BCVA) after surgery for idiopathic epiretinal membrane (iERM). <b><i>Methods:</i></b> Patients with 4 severity stages of iERM, who underwent vitrectomy with membrane- and internal limiting membrane peeling, were included in this prospective study. CRT, CT, and BCVA were assessed at baseline (BSL), 1 week, 1 and 3 months postoperatively. <b><i>Results:</i></b> Twenty-one eyes were phakic, 11 eyes pseudophakic at BSL, in 14 cases combined cataract surgery was performed. BCVA was highest in stage 1 and 2, lowest in stage 4 iERM (<i>p</i> &#x3c; 0.001) and correlated with CRT. After surgery, CRT decreased and BCVA increased significantly (<i>p</i> &#x3c; 0.05). CT did not show significant differences among stages (<i>p</i> = 0.23). BSL CRT did not differ between phakic and pseudophakic eyes, the least reduction after surgery was detected in patients who underwent combined cataract surgery and vitrectomy. BSL CT was greater in phakic than in pseudophakic eyes (<i>p</i> = 0.033). Postoperative CT decreased in pseudophakic and phakic eyes, but remained higher after combined surgery (<i>p</i> = 0.0048). <b><i>Conclusion:</i></b> CT is not related to the severity of iERM. Choroidal changes did not influence the BCVA. Additional cataract surgery seems to cause longer recovery in CT and CRT.