The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far. [ncbi.nlm.nih.gov]

Pigmentation present in the skin, hair and eyes can range from little or none to normal levels and findings of nystagmus, photophobia and reduced visual acuity can be present or absent. [orpha.net]

• Recurrent Infection

  We evaluated a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of Hermansky-Pudlak syndrome type 2. [ncbi.nlm.nih.gov]

  CHS presents with variable but often intermediate form of hypopigmentation recurrent severe pyogenic infections that is ultimately lethal accompanied by progressive neurologic abnormalities, coagulation defects, and mucosal defects such as gingivitis, [eyewiki.aao.org]

• Developmental Delay

  Angelman syndrome is a complex developmental disorder that includes developmental delay and severe mental retardation, microcephaly, neonatal hypotonia, ataxic movements, and inappropriate laughter. [web.archive.org]

  The phenotype of ES includes silvery hair, tendency for easy tanning due to a defect in melanin processing, profound CNS dysfunction including hypotonia, hemi or quadriplegia, seizure, and developmental delay, and lack of immunologic disturbance. [eyewiki.aao.org]

• Increased Susceptibility to Infections

  The triad of albinism, abnormal platelet aggregation, and abnormal tissue ceroid accumulation characterises the disorder. 17 Chediak-Higashi syndrome (chromosome 1q43) is characterised by albinism, increased susceptibility to infection as a result of [adc.bmj.com]

• Fever

  He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising. [ncbi.nlm.nih.gov]

• Aniridia

  METHODS: Enrolled patients underwent phacoemulsification and posterior chamber intraocular lens (PC IOL) implantation and had 2 Morcher aniridia rings (types 50 F or 50 E) inserted intracapsularly. [ncbi.nlm.nih.gov]

  Oculocutaneous) Albinism, Yellow-Mutant (Albinism, Oculocutaneous) Allergic Conjunctivitis (Conjunctivitis, Allergic) Amaurosis Fugax Amaurosis (Blindness) Amblyopia Ametropia (Refractive Errors) Angiogenesis, Corneal (Corneal Neovascularization) Angioid Streaks Aniridia [provisu.ch]

  […] also lead to confusion regarding the specificity of VEP asymmetry. 32 Foveal hypoplasia (fig 2 ), like visual pathway misrouting, is said to be a consistent diagnostic feature of albinism. 24 Other disorders that may feature foveal hypoplasia include aniridia [adc.bmj.com]

  Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. J Cataract Refract Surg. 2015 Nov. 41 (11):2438-43. [Medline]. Abadi R, Pascal E. The recognition and management of albinism. [emedicine.com]

• Night Blindness

  blindness type II. 29 This would reduce the value of the VEP as a diagnostic tool, but other VEP studies have not confirmed the presence of crossed asymmetry in these conditions. 30 31 In addition, no histological verification of visual pathway misrouting [adc.bmj.com]

  Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol. 1989 Aug. 107(8):1170-9. [Medline]. Witkop CJ Jr, White JG, Nance WE, et al. Classification of albinism in man. Birth Defects Orig Artic Ser. 1971 Jun. 7(8):13-25. [emedicine.com]

  The clinical findings, however, overlap with congenital stationary night blindness ( CSNB2A ). Due to similar features of OA2 and CSNB2A, Hawksworth et al raised the question of whether these two entities are the same [46]. [eyewiki.aao.org]

• Macula

  However, functional anatomy of the macula in albinism is not known. Observational case reports. [ncbi.nlm.nih.gov]

  Linear SD-OCT scans through the central macula in two unaffected members (V:4, V:5) and six patients (IV:1, IV:4, IV:5, V:6, V:8, and V:10). Grade 4 foveal hypoplasia was not observed in any of the family members. [iovs.arvojournals.org]

• Freckles

  Individuals at birth may be misdiagnosed as OCA type I but it is common for pigmentation to increase in older individuals resulting in yellow or reddish-blond hair and the appearance of freckles and nevi. [disorders.eyes.arizona.edu]

  Some individuals will develop freckles, moles (including pinkish ones that lack pigment), and large freckle-like spots called lentigines. They usually aren't able to tan, but do sunburn easily. [verywell.com]

  […] any pigment white or pink skin color blue eyes pink-red nevi solar keratosis ocular impaired visual acuity nystagmus strabismus type 2 (less severe) pink to cream skin color yellow/brown hair (not white hair) blue to yellow/brown irides pigmented nevi freckles [medbullets.com]

  Pigmented lesions (nevi, freckles, lentigines) develop in the skin of individuals who have developed pigmented hair and skin. OCA1A. [web.archive.org]

  It's also a good idea to look out for skin changes, such as: a new mole, growth or lump any moles, freckles or patches of skin that change in size, shape or colour Report these to a doctor as soon as possible. [nhs.uk]

• Piebaldism

  Piebaldism List of cutaneous conditions List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer Oculocutaneous albinism information at RareDiseases.org NCBI Genetic Testing Registry [en.wikipedia.org]

  Abstract Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. [ncbi.nlm.nih.gov]

  […] congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum; the underlying cause may be defective development of the neural crest (neurocristopathy); may be closely related to piebaldism [icd9data.com]

  Melanin stains will be negative in vitiligo and piebaldism and slightly to moderately positive in albinism and other disorders. [clinicaladvisor.com]

  Waardenburg Syndrome(WS) WS is an autosomal dominant disorder notable for patchy areas of depigmentation of the hair and skin in piebald-like distribution, heterochromia irides (pigment abnormality of the iris), and broad nasal root. [eyewiki.aao.org]

• Erythema

  A 36-year-old African man from Guinea with a history of albinism presented with a many-year history of scaling and erythema of the face, neck, and arms. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. [ncbi.nlm.nih.gov]

  Sun exposure produces erythema and a burn if the skin is has little pigment and is unprotected, but may tan well if cutaneous pigment has developed. [web.archive.org]

• Confusion

  Mild forms of albinism are underdiagnosed and confused with other forms of early-onset, infantile nystagmus. 4. Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. [ncbi.nlm.nih.gov]

  The contrasting language, different recording techniques, different response criteria, and different stimuli used in various studies could also lead to confusion regarding the specificity of VEP asymmetry. 32 Foveal hypoplasia (fig 2 ), like visual pathway [adc.bmj.com]

  Elejalde Syndrome (ES) Not to be confused with the acrocephalopolydactylous dysplasia, also known as Elejalde syndrome, this disease entity is synonymous with Neuroectodermal melanolysosomal disease [56]. [eyewiki.aao.org]

  Individuals with red hair who have either OCA1 or OCA2 are also recognized, but the reddish-brown skin pigment is usually not present, and they should not be confused with Rufous OCA. [web.archive.org]

• Seizure

  We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant proteins with significantly reduced but observable NCKX activity. [ncbi.nlm.nih.gov]

  The phenotype of ES includes silvery hair, tendency for easy tanning due to a defect in melanin processing, profound CNS dysfunction including hypotonia, hemi or quadriplegia, seizure, and developmental delay, and lack of immunologic disturbance. [eyewiki.aao.org]

Metastasis workup was negative. Complete surgical excision, strict photoprotection and regular follow-up were advised. A timely recognition of this potentially aggressive neoplasm is the key to curative treatment. [e-ijd.org]

Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures. [ncbi.nlm.nih.gov]

Treatment Treatment Options: No treatment is available for the hypopigmentation. Low vision aids can be helpful. Significant refractive errors should, of course, be corrected and dark lenses may be helpful during outdoor activities. [disorders.eyes.arizona.edu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis The disease is not life threatening and stabilizes after childhood. However, the medical and social consequences can have an impact on patient's daily life. [orpha.net]

[…] tyrosine Genetics inheritance pattern autosomal recessive mutations type 1 chromosome 11 gene encoding tyrosinase type 2 chromosome 15 OCA2 gene encodes small molecule transporters involved in transport of tyrosinase Associated conditions skin cancer Prognosis [medbullets.com]

Prognosis Visual prognosis in patients with albinism is quite variable. Usually, no improvement in visual acuity occurs in patients with type I oculocutaneous albinism. [emedicine.com]

We discuss the possible molecular etiology of albinism in regard to the mode of inheritance. [ncbi.nlm.nih.gov]

Etiology OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [orpha.net]

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosine. Pigment Cell Res. 2002;15:217. Oetting WS, Gardner JM, Fryer JP, et al. [rarediseases.org]

Summary Epidemiology OCA has an estimated prevalence of 1/17,000 worldwide. Clinical description The manifestations of OCA are highly variable depending on the specific subtype. [orpha.net]

OBJECTIVE: Based on our previous molecular epidemiological studies, we have implemented an optimized strategy for the genetic testing of Chinese OCA patients. [ncbi.nlm.nih.gov]

J Genet Disor Genet Rep 3:2. doi: 10.4172/2327-5790.1000117 Abstract Molecular Genetic Testing for Carrier- Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1 In India epidemiological-communicable diseases are on the decline [scitechnol.com]

Epidemiology Frequency United States The frequency of type I (tyrosinase negative) oculocutaneous albinism is approximately 1 in 17,000 to 1 in 20,000. The frequency of type IB albinism appears to be higher among Amish people. [emedicine.com]

“The pigmentary system: physiology and pathophysiology”. 2006. pp. 599-613. [clinicaladvisor.com]

The pathophysiology of oculocutaneous albinism involves a reduction in the amount of melanin present in each of the melanosomes. [emedicine.com]

In The Pigmentary System: Physiology and Pathophysiology, 2nd ed. Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne J-P, eds. New York, NY: Oxford University Press; 2006:599-613. King RA Hearing VJ, Creel DJ, et al. Albinism. [rarediseases.org]

Most TYR mutations eliminate the activity of tyrosinase, preventing melanocytes from producing any melanin throughout life. People with this form of albinism have white hair, light-coloured eyes and very pale skin. [ncbi.nlm.nih.gov]

However, the lack of pigment in the irises prevents them from completely blocking light from entering the eye, so a person with albinism may appear to have red eyes in some lighting. [verywell.com]