Familial exudative vitreoretinopathy and related retinopathies

Abstract

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). Four of these genes have been shown to have a central role in Norrin/Frizzled4 signalling, suggesting a critical role for this pathway in retinal angiogenesis. In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis. All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.

Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy

“…71 Although the incidence of FEVR is rare, the impact of vision impairment on the life quality of patients with severe FEVR is quite high, especially because they may experience vision impairment very early in life. 72 Patients with FEVR usually have a family history and hence may be diagnosed early, yet intervention options remain quite limited. Experimental studies of potential treatment for FEVR are also lacking.…”

Causal diagnosis of familial exudative vitreoretinopathy in two asymptomatic siblings. Wide-field image study of retinal abnormalities observed in the posterior pole

“…La contracción de la retina periférica puede inducir estiramiento y tracción del polo posterior, incluso ectopia macular y en casos severos la formación de pliegues retinianos falciformes. Raramente puede dar lugar a una displasia retiniana completa 2,4 . La AFG de campo amplio resulta de gran ayuda para el diagnós-tico y el seguimiento por su capacidad de explorar la retina periférica.…”

“…Como ocurre en la retinopatía del prematuro (ROP), el trastorno primario consiste en un fallo en el crecimiento de los vasos retinianos en la periferia afectando más frecuentemente a la arteria temporal. Las complicaciones secundarias de la enfermedad dependerán del grado de isquemia 2,3 . La herencia suele ser autosómica dominante (HAD), aunque puede ser autosómica recesiva (HAR) o ligada al X. También se han descrito casos sin antecedentes familiares de la enfermedad 2 .…”

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“…Ðîññèéñêèé îôòàëüìîëîãè÷åñêèé aeóðíàë, 2017; 1: [43][44][45][46][47][48] форму глаза и легко фиксировался к глазной поверх-ности (рис. 4).…”

“…Ðîññèéñêèé îôòàëüìîëîãè÷åñêèé aeóðíàë, 2017; 1: [43][44][45][46][47][48] профилактической склеропластики (одномоментно со снятием радиоактивного офтальмоаппликатора) (неопубликованные данные), что может снизить риск развития лучевого некроза склеры и необходимость повторного этапа хирургического лечения.…”