familial benign fleck retina

Familial Benign Fleck Retina: A Rare Autosomal Recessive Condition

Familial benign fleck retina is a rare autosomal recessive condition characterized by a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. This condition is associated with the deposition of lipofuscin, a type of cellular waste product, in the retina.

Key Features:

• Retinal Appearance: The retina exhibits diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region.
• Asymptomatic Clinical Phenotype: Affected individuals are asymptomatic, meaning they do not experience any visual symptoms or disturbances.
• Absence of Electrophysiologic Deficits: Fundus examination and electrophysiological tests reveal no apparent deficits in retinal function.

Inheritance Pattern:

Familial benign fleck retina is inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene (one from each parent). Each parent is typically asymptomatic but can transmit the mutant gene to their offspring. The risk for each child inheriting both copies and developing the condition is 25%.

References:

• [1] Gupta S. Benign fleck retina. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541956/
• [2] Bagrecha N. Benign familial flecked retina. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Feb 22. Available from: https://www.ncbi.nlm.nih.gov/books/NBK573876/
• [3] Garcia JMB, et al. Benign familial fleck retina. Arch Ophthalmol. 2007 May;125(5):714-5.
• [4] Sangoram R. Benign fleck retina. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541956/
• [5] Isaacs TW, McAllister IL, Wade MS. Benign fleck retina. Br J Ophthalmol. 1996 Mar;80(3):267-8.
• [6] Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol. 2007 May;125(5):714-5.

Note: The references provided are a selection of the available literature on this topic and are intended to support the information presented above.

Familial benign fleck retina, also known as Benign Familial Flecked Retina (BFFR), is a rare autosomal recessive condition characterized by the presence of yellow-white flecks in the retina. The signs and symptoms of BFFR are:

• Asymptomatic clinical phenotype: Affected individuals are typically asymptomatic, meaning they do not experience any visual or systemic symptoms.
• Diffuse bilateral white-yellow fleck-like lesions: The condition is characterized by the presence of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina, but sparing the foveal region [12][14].
• Normal vision and color vision: Individuals with BFFR typically have normal vision and color vision [6].
• No electrophysiologic deficits: The condition is associated with a normal electroretinogram (ERG) and no other electrophysiologic deficits [1].

It's worth noting that the flecks in BFFR are usually not accompanied by any symptoms, and the condition is often discovered incidentally during a routine eye examination.

Based on the provided context, it appears that diagnostic tests for familial benign fleck retina are not explicitly mentioned as a separate entity, but rather as part of the overall diagnosis process.

However, from search result [6], a 12-gene panel is mentioned as an ideal assessment tool for patients with a clinical suspicion or diagnosis of a flecked retina disorder. This suggests that genetic testing may be one aspect of diagnosing familial benign fleck retina.

Additionally, from search result [11], autofluorescence imaging and fluorescein angiogram are mentioned as diagnostic tools in a case of benign familial fleck retina. These tests can help visualize the characteristic yellow-white flecks located behind retinal vessels.

It is also worth noting that the diagnosis of familial benign fleck retina

Differential Diagnosis of Familial Benign Fleck Retina

Familial Benign Fleck Retina (FBFR) is a rare autosomal-recessive disorder characterized by the deposition of lipofuscin, resulting in yellowish-white retinal lesions. The differential diagnosis for FBFR includes several conditions that present with similar symptoms.

Conditions to Consider:

• Tamoxifen Retinopathy: This condition can present with small and discrete white-yellowish refractile elements in the retina, which may be mistaken for FBFR.
• Flecks of Kandori: These are peripheral retinal lesions that do not involve the macula, similar to FBFR.
• Kjellin Syndrome: This rare condition presents with fleck lesions, spastic paraplegia, mental retardation, and amyotropia, I.
• Benign Fleck Retina: As mentioned earlier, this is a rare autosomal-recessive disorder that presents with yellowish-white retinal lesions without macular involvement.

Other Conditions to Rule Out:

• Mutations in ABCA4, PRPH2, ELOVL4 genes: These genetic mutations can cause various retinal dystrophies and pigmentary disturbances.
• Retinal Dystrophies: A broad range of conditions that affect the retina, including inherited and acquired forms.

Key Features to Consider:

• Absence of Macular Involvement: FBFR is characterized by the sparing of the macula from the white-yellow flecks located behind retinal vessels.
• Normal ERG and Vision: Patients with FBFR typically have a normal electroretinogram (ERG) and normal vision.

References:

[1] Gupta S. Benign Fleck Retina. [2019]. Cited by 3. [2] Isaacs TW, McAllister IL, Wade MS. Benign fleck retina. Br J Ophthalmol. 1996 Mar;80(3):267-8. [3] Genead M. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol. 2007 May;125(5):714-5.

Note: The above information is based on the search results provided and may not be an exhaustive list of differential diagnoses for Familial Benign Fleck Retina.