Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia

Abstract

Background/aims: Few studies have reported on the change in visual acuity (VA) in patients with choroideraemia. In order to determine the degree and rate of VA impairment associated with this disease, the central VA was analysed in a large group of patients with choroideraemia. Methods: The authors completed a retrospective, cross sectional review of 115 patients with choroideraemia from three tertiary care centres. A longitudinal analysis was performed on 45 of these patients who met the inclusion criteria of at least three visits over a minimum period of 4.5 years. Multiple linear regression analysis was used to explore the 5 year rate of VA change while controlling for initial VA and initial age. Multiple logistic regression was also used to investigate VA impairment. Conclusion:In this cohort of patients with choroideraemia, there was typically a slow rate of VA loss and the prognosis for central VA retention was, as a group, favourable until the seventh decade.

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

“…Its incidence is estimated to be one in 50,000 males [MacDonald and . Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age [Roberts et al, 2002]. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy that represent clonal areas of the disease probably due to random X-inactivation [MacDonald and .…”

Ultrasound Cyclo-Plasty in Patients with Glaucoma: 1-Year Results from a Multicentre Prospective Study

“…Data from BCVA were converted to logMAR equivalents of Snellen acuity. We used extrapolated values of 2.6, 2.7, 2.8, and 2.9 logMAR to represent the vision of counting fingers, hand motion, light perception, and no light perception, respectively [13].…”

Sobre la terapia génica para enfermedades de la retina

“…Los datos preliminares mostraron una buena seguridad y un aumento inesperado de la función visual en algunos de los pacientes. Estas evidencias fueron notables, pues la mayoría de los informes previos sobre coroideremia enfatizaban la conservación de la agudeza visual hasta los últimos estadios [43] , y la mayoría de los pacientes del ensayo se sometieron a operación con una agudeza visual (casi) normal. Por consiguiente, el objetivo inicial era demostrar la seguridad y la eficacia en términos de prevenir un mayor deterioro de la visión.…”