Table 1.

Disorders with dermatological and pigmentary retinopathy or cone-rod dystrophy in combination

Disorder	Dermatological phenotype	Ocular phenotype	Comment
Alström Syndrome (ALMS) a MIM 203800	Acanthosis nigricans Alopecia Hirsutism	Cone-rod dystrophy Photophobia Nystagmus Blindness Subcapsular cataracts	Severe systemic involvement. Mutations in ALMS1, ALMS1 expressed in the basal bodies of ciliated cells. Combination of features seen only in ALMS.
Alopecia areata	Alopecia areata	Lens involvement and degenerative changes, pigmentary clumping and abnormal vascular changes	Normal population
MULIBREY nanism (Muscle, liver, brain, eye nanism) MIM 253250	Acanthosis nigricans Cutaneous nevi (limbs)	Pigmentary retinopathy Macular changes-Yellow dots on macula Hypoplasia of choroid Astigmatism Strabismus	Mutations in b TRIM37 – proxisomal protein
Lipodystrophy with congenital cataracts and neurodegeneration MIM 606721	Acanthosis nigricans	Pigmentary retinopathy Congenital cataract Nystagmus Ocular dysmetria
HJDM (Hypotrichosis congenital with Juvenile Macular Dystrophy) MIM 601553	Alopecia, Congenital hypotrichosis, Fusiform beading of hair shaft, Pili torti	Juvenile macular (cone-rod) dystrophy	Mutations in c CDH3, a gene encoding P- cadherin, which is expressed in retinal pigment epithelium and in hair follicles.
Oliver McFarlane syndrome MIM 275400	Frontal alopecia Very long eyelashes and eyebrows	Pigmentary retinopathy Ring iris heterochromia Nystagmus	Mental retardation, dwarfism
Cone-rod congenital amaurosis MIM 204110	Congenital hypertrichosis, Hirsutism	Cone-rod dystrophy
Joubert syndrome 10 (JBTS10) MIM 300804	Hirsutism	Pigmentary retinopathy	Mutations in d OFD1, e(CXORF5) a ciliary protein disorder
Mucopolysaccharidosis type IIIC(Sanfilippo syndrome) MIM 252930	Hirsutism, Coarse hair	Pigmentary retinopathy	Mutations in f HGSNAT
Edwards syndrome MIM 268020	Acanthosis nigricans	Pigmentary retinopathy	Similar to ALMS, but with mental retardation

^aMendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/omim);

^bTripartite motif-containing 37;

^cCadherin-3 (P-cadherin);

^dOral-facial-digital syndrome 1;

^eChromosome X open reading frame 5;

^fheparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase