This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.com]

disorder Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet Friedreich ataxia Aicardi-Goutieres syndrome type 5 Corneodermatoosseous syndrome Ankyloblepharon filiforme adnatum cleft palate Renpenning syndrome [checkrare.com]

This report demthat SLC16A12 is important for lens and kidney homeostasis and dLens transparency, a requirement of unobstructed vision,is achieved by ordered events of cell differentiation accom-panied by controlled arrangement of proteins, mainly crys-tallins [myslide.es]

Thalassemia-beta, dominant inclusion-body, 603902 (3) HBB 141900 Thalassemias, beta-, 613985 (3) HBD 142000 Thalassemia due to Hb Lepore (3) HBD 142000 Thalassemia, delta- (3) HBG1 142200 Fetal hemoglobin quantitative trait locus 1, 141749 (3) HBG2 142250 Cyanosis [usegalaxy.org]

TMC8) Epidermolysis bullosa dystrophica, AD ( COL7A1) Epidermolysis bullosa dystrophica, AR ( COL7A1) Epidermolysis bullosa of hands and feet ( ITGB4) Epidermolysis bullosa pruriginosa ( COL7A1) Epidermolysis bullosa simplex with migratory circinate erythema [en.praenatal-medizin.de]

Pierre Robin sequence with pectus excavatum and rib and scapular anomalies Insulin-resistance type B Minicore myopathy with external ophthalmoplegia Beta ketothiolase deficiency Chromosome 17p duplication Mungan syndrome 3MC syndrome Keratolytic winter erythema [checkrare.com]

with peripheral neuropathy (3) GJB3 603324 Deafness, autosomal recessive (3) GJB3 603324 Deafness, digenic, GJB2/GJB3, 220290 (3) GJB3 603324 Erythrokeratodermia variabilis et progressiva, 133200 (3) GJB4 605425 Erythrokeratodermia variabilis with erythema [usegalaxy.org]

pigment epithelium Retinal capillary malformation Retinal degeneration-nanophthalmos-glaucoma syndrome Retinal dystrophy Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Retinal macular dystrophy type 2 Retinal vasculopathy [se-atlas.de]

and Hjelmeland, L.M. (2003).Polarized expression of monocarboxylate transporters inhuman retinal pigment epithelium and ARPE-19 cells. Invest.Ophthalmol. Vis. Sci. 44, 17161721.19. Rost, B., Yachdav, G., and Liu, J. (2004). [myslide.es]