The authors present part of a study concerning inherited retinal dystrophies as recorded
among the inhabitants of the Nord-Pas-de-Calais region of France. This retrospective study, …

… (B) Posterior subcapsular cataract in individual III6 of Family 1. (C) Fundal photomontage
of individual VI2 of Family 3. (D, E) Pedigrees of Family 1 and 3, respectively. …

Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is
an autosomal‐dominant trait with variable expressivity. So far it was described in 5 families. …

Purpose Using exome sequencing, the underlying variants in many persons with autosomal
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …

… A targeted genome capture of the linked region was performed on 3 members of family A
(2 affected and 1 unaffected), 2 members of family K, and 1 member of family B. Libraries …

Purpose Missing heritability in human diseases represents a major challenge, and this is
particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the …

… B, D, F, Final examination 3 years later. B, Color fundus photograph of the right eye showing
the progression of the vitelliform lesion that finally included foveal drusen-like lesions. D, …

Objectives: The main objective of the study was to determine the prevalence of venous
thromboembolism events in patients infected with severe acute respiratory syndrome coronavirus …

Alström syndrome is an autosomal recessive disorder characterized by cone-rod dystrophy,
obesity, hearing impairment, and diabetes caused by insulin resistance. By reviewing the …

Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many
patients are genetically unsolved due to insensitive mutation‐scanning methods. We aimed to …