Familial flecked retina syndrome

Doyne honeycomb degeneration of retina [DS:H02110]
Basal laminar drusen [DS:H02108]
Fundus albipunctatus
Retinitis punctata albescens
Bietti crystalline corneoretinal dystrophy [DS:H02107]

The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal laminar drusen (BLD) are included in familial drusen. However, there are far more diseases with fleck-like deposits in the retina, including primary hereditary ocular diseases such as retinitis punctata albescens (RPA) or Bietti's crystalline dystrophy (BCD), neuro-ophthalmologic syndromes such as Kjellin's syndrome, and secundary retinal flecks due to metabolic disorders.

Nervous system disease

(DHRD) EFEMP1 [HSA:2202] [KO:K18262]
(BLD) CFH [HSA:3075] [KO:K04004]
(FA) RDH5 [HSA:5959] [KO:K00061]
(RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]

PMID:19373677

Walia S, Fishman GA, Kapur R

Flecked-retina syndromes.

Ophthalmic Genet 30:69-75 (2009)
DOI:10.1080/13816810802654516

PMID:11913893

Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC

Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy).

Eye (Lond) 16:7-15 (2002)
DOI:10.1038/sj.eye.6700018

PMID:7952338

De Laey JJ

Flecked retina disorders.

Bull Soc Belge Ophtalmol 249:11-22 (1993)

PMID:14767656

Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y

A case of sectorial benign flecked retina.

Jpn J Ophthalmol 48:72-4 (2004)
DOI:10.1007/s10384-003-0002-6