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Purpose: To identify challenges and pose solutions for communications about ocular gene therapy between patients and clinicians as clinical research progresses., Design: Literature review with recommendations., Methods: Literature review of science communication best practices to inform recommendations for patient-clinician discussions about ocular gene therapy., Results: Clinicians need to employ communications about ocular gene therapy that are both attentive to patient priorities and concerns and responsive to other sources of information, including overly positive news media and the Internet. Coverage often conflates research with therapy-clinical trials are experimental and are not risk free. If proven safe and efficacious, gene therapy may present a treatment but not a cure for patients who have already experienced vision loss. Clinicians can assist patients by providing realistic estimates for lengthy clinical development timelines and positioning current research within models of clinical translation. This enables patients to weigh future therapeutic options when making current disease management decisions., Conclusions: Ocular gene therapy clinical trials are raising hopes for treating a myriad of hereditary retinopathies, but most such therapies are many years in the future. Clinicians should be prepared to counter overly positive messaging, found in news media and on the Internet, with optimism tempered by evidence to support the ethical translation of gene therapy and other novel biotherapeutics., (Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: To examine the prevalence of systemic and ocular disease among choroideremia patients and carriers., Methods: A cross-sectional analysis was performed on responses from affected males with choroideremia, female carriers, and unaffected brothers to an Internet-based survey made available from September 2009 to November 2010. Affected males were classified into two groups, those with or without functional vision. Carrier females were classified into those with and without symptoms. Comparisons were made between these groups., Results: There was a higher prevalence of dry eye in our respondents than the North American population. The prevalence of dry eye, cataract, hypertension, diabetes, psychological problems and hypercholesterolemia were higher in choroideremia males without functional vision compared to those with functional vision. Likewise, statin intake was more prevalent among the affected males without functional vision than those with functional vision. After age adjustment, any differences between the two subgroups of male patients (with and without functional vision) were not significant., Conclusion: Age plays an important role in determining the onset of severe visual impairment with loss of functional vision in male subjects affected by choroideremia. Although Internet surveys have limitations such as the use of self-reported diagnoses and the possibility that the responses may not be representative of the population as a whole, this study shows that such surveys can provide data quickly and easily, and for rare diseases such as choroideremia, with relatively large numbers of responses., (Ophthalmic & Physiological Optics © 2013 The College of Optometrists.)

Abstract: Histopathology of young individuals affected by choroideremia is rarely available to allow correlation with the clinical presentation. A 30-year-old man with choroideremia died in a motor vehicle accident and one eye was subjected to histopathological examination. Immunoblot analysis of protein derived from white blood cells of a living brother, also affected with choroideremia, confirmed the absence of Rab escort protein-1, the normal CHM gene product. Direct sequencing of the coding region and adjacent splice sites of the CHM gene was undertaken on genomic DNA from the living brother and revealed a transition mutation, C to T, in exon 6 (R253X) which resulted in a stop codon and was predicted to truncate the protein product. Histopathological examination of the eye of the deceased brother showed relative independent degeneration of choriocapillaris, retinal pigment epithelium, and retina, similar to observations in the mouse model of choroideremia. In addition, mild T-lymphocytic infiltration was found within the choroid. The ophthalmic features and the pathology of choroideremia are discussed in light of new findings in the current case. [Copyright &y& Elsevier]

A 28-year old woman had an ocular syndrome consisting of congenital lid and punctal anomalies, and corneal and chorioretinal dystrophy without facial dysmorphism. These combined malformations of the ocular adnexae and both anterior and posterior ocular segments have not been previously described and appear to represent a novel syndrome. Direct sequencing of PAX6 and the DNA-binding domain of FOXC1 failed to detect a mutation. [ABSTRACT FROM AUTHOR]

The article reports on a de novo gene mutation in a woman which showed the clinical characteristics of choroidemia (CHM). A single base-pair sequence mutation was observed in codon 293 in exon 7 (R293X) of the CHM gene in the proband. This mutation was not present in her clinically unaffected parents.

An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers. [ABSTRACT FROM AUTHOR]