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Patients with Cohen syndrome very frequently exhibit abnormal eyelash and eyelid morphology, teeth abnormalities, lingual aplasia or hypoplasia, arachnodactyly, chorioretinal dystrophy, downslanted palpebral fissures, gingival overgrowth, global developmental delay, a high and narrow palate, maxillary hypoplasia, zygomatic bone hypoplasia, hypotonia, intellectual disability, long eyelashes ...
They are also likely to have visual problems, which can include: crossed eyes, cataracts, retinal detachment, and severe visual loss. Dental problems are also common, and can include hypodontia, abnormally shaped teeth, and delayed tooth eruption. [3] Breast anomalies can occur in 1% of patients and can include hypoplasia or supernumerary nipples.
Gardner syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas that give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon. Gardner ...
Other names: Inherited retinal dystrophy/diseases: Back of the eye of a person with mid-stage retinitis pigmentosa. Note pigment deposits in the mid periphery along with retinal atrophy. While the macula is preserved there is some loss of pigmentation around it. Specialty: Ophthalmology, Optometry: Symptoms
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a harmless, pigmented fundus lesion that can be of various forms: solitary, grouped, and atypical, [1] and are found through clinical eye screenings from digital retinal imaging often established by ophthalmologists. [2]
Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. [1] [2] It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal.
Retinitis pigmentosa, mid stage. Kearns and Sayre described patients with "pigmentary degeneration" on funduscopy, night vision abnormalities, and some histologic similarities, but also clinical differences, to retinitis pigmentosa [2] Subsequently, the retinal phenotype of KSS was described as retinitis pigmentosa, atypical retinitis pigmentosa, tapetoretinal degeneration, salt-and-pepper ...
Nance–Horan syndrome, also known as X-linked congenital cataracts and microcornea, X-linked cataract–dental syndrome, cataracts-oto-dental syndrome, cataract–dental syndrome, and mesiodens–cataract syndrome, is a rare X-linked syndrome characterized by eye and teeth abnormalities, intellectual disability, and facial deformities.