The characteristic fundus appearance is seen in?
Juvenile Best macular dystrophy Best (vitelliform) macular dystrophy is the second most common macular dystrophy. 1 Inheritance is Autosomal Dominant with variable penetrance and expressivity with the gene locus on 11q13 (BEST1 gene). 2 Signs evolve gradually through the following stages: a Pre-vitelliform is characterized by a subnormal EOG in an asymptomatic child with a normal fundus. b Vitelliform develops in infancy or early childhood and does not usually impair vision. * A round, sharply-delineated ('sunny side up egg yolk') macular lesion within the RPE that varies in size between half a disc and two disc diameters. * FA shows the corresponding hypofluorescence due to blockage. * OCT shows material within the RPE. * The size of the lesions and stage of development in the two eyes may be asymmetrical and occasionally only one eye is initially involved. * Occasionally the condition may be extramacular and multiple. c Pseudohypopyon may occur at pubey when pa of the lesion becomes resorbed. d Vitelliruptive in which the egg yolk begins to break up ('scramble') and visual acuity drops. e Atrophic in which all pigment has disappeared leaving an atrophic area of RPE. 3 EOG is severely subnormal during all stages and also abnormal in carriers with normal fundi. 4 Prognosis is reasonably good until the 5th decade after which visual acuity declines in one or both eyes due to CNV, scarring or geographic atrophy. Best disease (vitelliform macular degeneration) Best disease is a genetic condition you are born with, although it does not usually sta to affect your vision until later in life. Best disease affects the macula which is pa of your retina at the back of your eye which you use when reading, writing or watching TV Ref: Kanski; 7th edition; Pg. 665
Stargardt disease
Best disease
Fundus flavimaculatus
Stickler syndrome
Vitreous and retina