People with Tietz syndrome are born with white hair and very pale skin but their hair color often darkens over time; The colored part of the eye (the iris) is blue. 0000365 Hypopigmentation of hair Loss of hair color 0005599 Hypopigmentation of the skin [rarediseases.info.nih.gov]

impairment 0008619 Blue irides Blue eyes 0000635 Congenital sensorineural hearing impairment 0008527 Generalized hypopigmentation Fair skin Pale pigmentation [1] Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions [rarediseases.info.nih.gov]

Additionally, the MITF protein regulates the development of the retinal pigment epithelium. [ghr.nlm.nih.gov]

The iris in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. [en.wikipedia.org]

Both had lack of retinal pigmentation. Although the degree of hypopigmentation is not identical to the phenotype in the present family, this phenotype was felt by the authors to be closest to Tietz syndrome. [dx.doi.org]

Clinical description Affected cases have a pale skin, blue eyes and light blond to white hair with white eyebrows and eyelashes. They gradually gain some pigmentation often as freckles on sun-exposed areas. [orpha.net]

[…] of the skin Patchy lightened skin 0001010 White eyebrow Pale eyebrow 0002226 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bilateral sensorineural hearing impairment 0008619 Blue irides Blue [rarediseases.info.nih.gov]

All affected subjects have blue eyes and ophthalmological examination showed hypopigmented fundi, but there is no nystagmus or other visual problems and no heterochromia irides. [dx.doi.org]

Mutations of this gene produce a range of phenotypes including white spotting or pigmentary dilution, inner ear abnormalities, bone resorption problems, and small eyes. 14 In mice, there are three mi mutations in the basic region which are inherited in [dx.doi.org]

They gradually gain some pigmentation often as freckles on sun-exposed areas. Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal. [orpha.net]

The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family. [ghr.nlm.nih.gov]

They may have reddish freckles and some subjects reported they can even tan slightly with very careful exposure to sun. [dx.doi.org]

Clinical description Affected cases have a pale skin, blue eyes and light blond to white hair with white eyebrows and eyelashes. They gradually gain some pigmentation often as freckles on sun-exposed areas. [orpha.net]

eyebrow Pale eyebrow 0002226 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bilateral sensorineural hearing impairment 0008619 Blue irides Blue eyes 0000635 Congenital sensorineural hearing [rarediseases.info.nih.gov]

They gradually gain some pigmentation and have fair skin and blonde to white hair as adults with white eyebrows and eyelashes. They may have reddish freckles and some subjects reported they can even tan slightly with very careful exposure to sun. [dx.doi.org]

They described themselves as having profound congenital deafness along with blonde hair and white eyelashes and eyebrows, transmitted through at least seven generations. [dx.doi.org]

They described themselves as having profound congenital deafness along with blonde hair and white eyelashes and eyebrows, transmitted through at least seven generations. [dx.doi.org]