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The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

Using three different drugs together may better treat eye diseases like glaucoma and macular degeneration.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.

Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.

Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.

Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.

Eyelash alopecia areata often goes undiagnosed and can lead to complete eyelash regrowth, especially in younger patients.

The document explains the genetic causes and characteristics of inherited hair disorders.

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

Long-term use of finasteride and dutasteride can cause serious health issues like diabetes and liver problems.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

The document is a detailed medical reference on skin and genetic disorders.

Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.

The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.

Taking Propecia might lead to the development of cataracts.

Finasteride, often used for hair loss, can potentially cause cataracts.

The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.