Oguchi disease-1

Oguchi Disease-1: A Rare Form of Congenital Stationary Night Blindness

Oguchi disease-1 is a rare autosomal recessive form of congenital stationary night blindness, characterized by impaired night vision. This condition is caused by mutations in the S-arrestin gene (SAG) [4]. The symptoms of Oguchi disease-1 include:

• Congenital Stationary Night Blindness: Individuals with Oguchi disease-1 are born with a nonprogressive form of night blindness, which means that their vision does not improve over time.
• Fundus Discoloration: The color of the fundus (the inner layer of the eye) changes from red to gray or white in the dark [3].
• Abnormally Slow Dark Adaptation: Individuals with Oguchi disease-1 take longer than normal to adapt to darkness, making it difficult for them to see in low-light conditions.

Key Features

• Autosomal recessive inheritance pattern
• Congenital stationary night blindness
• Fundus discoloration and abnormally slow dark adaptation

References

[3] - The change in the color of the fundus from red in the dark-... [4] - Oguchi disease is classified as type 1 when it is caused by autosomal recessive mutations in the S-arrestin gene (SAG) gene...

Signs and Symptoms of Oguchi Disease

Oguchi disease, also known as congenital stationary night blindness, presents with a distinct set of signs and symptoms.

• Night Blindness: The most common symptom is nonprogressive night blindness since young childhood or birth, with normal day vision [2].
• Fundus Discoloration: A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after light exposure [3].
• Static Nyctalopia: Patients often complain of static nyctalopia, which means they have difficulty seeing at night but their vision remains stable over time [5].

These symptoms are characteristic of Oguchi disease and can help with diagnosis. It's essential to note that the disease is associated with an autosomal recessive inheritance pattern, meaning it is inherited in a specific genetic manner.

References: [1] Not applicable (initial query) [2] Context #2 [3] Context #3 [5] Context #5

Diagnostic Tests for Oguchi Disease Type 1

Oguchi disease type 1, also known as autosomal recessive congenital stationary night blindness, can be diagnosed through a combination of clinical examination and genetic testing. Here are some diagnostic tests that may be used to confirm the diagnosis:

• Clinical Examination: A thorough eye examination is essential in diagnosing Oguchi disease type 1. The presence of night blindness and abnormal fundus appearance, such as the Mizuo-Nakamura phenomenon, can be observed during a clinical examination [10].
• Fundus Photography: Fundus photography can help confirm the diagnosis by showing the characteristic changes in the retina, including the golden coloration immediately or shortly after light exposure [3].
• Genetic Testing: Molecular genetic testing is available to diagnose Oguchi disease type 1. This involves analyzing the S-arrestin gene (SAG) for mutations that cause the condition [5]. Genetic testing can be performed post-natally, making it a useful tool for diagnosis and carrier screening [6].
• Visual Acuity Testing: Visual acuity is typically normal in individuals with Oguchi disease type 1. However, visual function tests may be conducted to rule out other conditions that could cause night blindness [9].

It's essential to note that diagnosing Oguchi disease type 1 involves a combination of clinical examination and genetic testing. A healthcare professional can provide guidance on the most suitable diagnostic approach for an individual case.

References: [3] - Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. [5] - Oguchi disease is classified as type 1 when it is caused by autosomal recessive mutations in the S-arrestin gene (SAG) gene, while type 2 is caused by mutations ... [6] - Molecular diagnosis of Oguchi Disease type 1 and 2 (SAG and GRK1 gene). Radboudumc - Radboud universitair medisch centrum. Purpose(s): Post-natally diagnosis. [9] - Diagnosis. Visual acuity and color vision are typically normal in this disorder. On clinical testing, in addition to the abnormal fundus appearance, patients ... [10] - May 31, 2021 — In conclusion, the clinical diagnosis of Oguchi's disease is based on congenital stationary night blindness and the Mizuo–Nakamura phenomenon.

Current Status of Drug Treatment for Oguchi Disease-1

Unfortunately, there is no specific treatment available for Oguchi disease-1, a rare autosomal recessive form of congenital stationary night blindness [11]. However, research has been conducted to explore potential therapeutic options.

• No established treatments: As of now, there is no established treatment or medication specifically approved for Oguchi disease-1 [9][13].
• Experimental treatments: Some studies have investigated the use of certain medications in mouse models of Oguchi disease. For instance, a combination of metoprolol (β1-receptor antagonist) and bromocriptine (dopamine family-2 receptor agonist) has been shown to prevent acute bright light-induced retinal degeneration in mice [6].
• Therapeutic potential: Research on other rare eye disorders, such as Stargardt disease and congenital stationary night blindness, suggests that certain treatments may have therapeutic potential for Oguchi disease. However, more studies are needed to confirm the efficacy and safety of these treatments in humans.

References

[6] by H Leinonen · 2019 · Cited by 16 — Mice were intraperitoneally injected with either vehicle or drug combination consisting of metoprolol (β1-receptor antagonist), bromocriptine (dopamine family-2 receptor agonist)...

[9] May 31, 2021 — Thus far, no treatment for Oguchi's disease has been found. Therefore, the diagnostic signs are important to recognize. Here, we described two ...

[11] Oguchi disease is a nonprogressive disorder that causes night blindness. It is present at birth. Daytime vision, color vision, and side vision are all normal. It is a unique condition in which the color of the retina in the back of the eye is golden or gray-white in lighted conditions but this color disappears in dark situations.

[13] Oguchi disease 1 is a rare autosomal recessive form of congenital stationary night blindness. It is characterized by normal visual functions except for impaired night vision, often accompanied by nystagmus and myopia. ... Drugs & Therapeutics for Oguchi Disease 1.

Differential Diagnosis of Oguchi Disease-1

Oguchi disease-1, also known as congenital stationary night blindness (CSNB), is a rare genetic disorder that affects the retina's ability to adapt to light. When diagnosing Oguchi disease-1, it