Deafness-enamel hypoplasia-nail defects syndrome

Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

Macular dystrophy

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.

Total: 3

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PMID (PMCID)
29676688	MALE	Child
	Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
	Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV. Ophthalmic Genet. 2018;39(3):384-390.
	Heimler syndrome due to biallelic PEX6 mutations demonstrates a macular dystrophy with characteristic fundus autofluorescence and may be complicated by intraretinal cystoid spaces.
21366429 (3093430)	FEMALE	Adult
	Macular dystrophy in Heimler syndrome.
	Lima LH, Barbazetto IA, Chen R, Yannuzzi LA, Tsang SH, Spaide RF. Ophthalmic Genet. 2011;32(2):97-100.
	We report an adult-onset macular dystrophy in one of the previously reported patients with Heimler syndrome and hypothesize that this syndrome is probably an expression of a ciliopathy.
21366429 (3093430)	FEMALE	Adult
	Macular dystrophy in Heimler syndrome.
	Lima LH, Barbazetto IA, Chen R, Yannuzzi LA, Tsang SH, Spaide RF. Ophthalmic Genet. 2011;32(2):97-100.
	Macular dystrophy in Heimler syndrome.