We present examples of nerve fibre layer changes in diseases thought to affect primarily the outer retinal layers. These disease processes include cone-rod dystrophies, rod-cone dystrophies, juvenile macular degeneration (Stargardt's disease) and fundus flavimaculatis, vitelliform macular dystrophy, and Leber's congenital amaurosis. All were associated with alterations in the retinal nerve fibr...

Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients. These genes are expressed preferentially in the retina or the retinal pigment epithelium. Their putative functions are quite di...

The advent of gene editing has introduced the ability to make changes to the genome of cells, thus allowing for correction of genetic mutations in patients with monogenic diseases. Retinal diseases are particularly suitable for the application of this new technology because many retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA), are mon...

PURPOSE It is known that symptoms of congenital achromatopsia are caused by the lack of functioning cones, but there are very few published data on histologic changes in the retina in these cases. This study was conducted to examine in vivo the anatomic structure of the retina of patients with achromatopsia. METHODS Fifteen eyes of eight patients with congenital achromatopsia and 18 eyes of n...

CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, aplasia, skin atrophy GENITAL DISORDERS genital dysfunctions hypogenitalism, hypogonadism; small testes, microorchidism, hypoplastic scrotum male genitalia, modifications not including ambiguity cryptorchidism JOINT DISORDERS joint, mo...

Visual evoked potential (VEP) asymmetry in which a preponderance of nasal and temporal retina afferents project to the contralateral hemisphere after full-field monocular stimulation is considered specific to albinism. Some reports, however, suggest that patients with congenital nystagmus (CN) share the albino-like visual pathway anomaly. To examine the clinical specificity of albino misrouting...

Retinal detachment with a break at the pars plicata associated with congenital malformation of lens-zonule-ciliary body complex is rare; most reports are of young Japanese male patients with atopic dermatitis. The present case report is the first to describe the condition in a Chinese patient with no atopic dermatitis or trauma history. A 22-year-old male presented with blurred vision in the le...

Three children who presented in infancy with a severe visual defect and absent or barely recordable electroretinograms, with relatively well preserved visually evoked cortical potentials, were subsequently found to have vertical and horizontal saccade palsies with head thrusts but relatively good visual acuity. These children, who were clearly different from other infants with congenital retina...

BACKGROUND Leber congenital amaurosis (LCA), a heterogeneous early-onset retinal dystrophy, accounts for approximately 15% of inherited congenital blindness. One cause of LCA is loss of the enzyme lecithin:retinol acyl transferase (LRAT), which is required for regeneration of the visual photopigment in the retina. METHODS AND FINDINGS An animal model of LCA, the Lrat-/- mouse, recapitulates c...

Retinal degeneration arises from the loss of photoreceptors or retinal pigment epithelium (RPE). It is one of the leading causes of irreversible blindness worldwide with limited effective treatment options. Generation of induced pluripotent stem cell (IPSC)-derived retinal cells and tissues from individuals with retinal degeneration is a rapidly evolving technology that holds a great potential ...