Goldmann-Favre syndrome | |
---|---|
![]() | |
Specialty | Medical genetics |
Symptoms | Ocular |
Usual onset | Childhood |
Duration | Lifelong |
Causes | Genetic mutation |
Risk factors | Being of Jewish descent, being part of a consanguineous family |
Prevention | none |
Prognosis | Medium |
Frequency | rare |
Deaths | - |
Goldmann–Favre syndrome is a rare genetic disorder characterized by early-onset nyctalopia, decreased visual acuity, and abnormal findings of the fundus. [1] It is a type of progressive vitreotapetoretinal degeneration. [2]
This condition is more common among Marrano Jews living in Belmonte, Portugal.
Individuals with this condition usually start showing signs of nyctalopia (also known as night-blindness) during their early childhood, increase in sensitivity to blue light, progressive decrease of visual acuity in both eyes, cataract, peripheral vision loss, vitreous liquefaction and detachment, clumped pigment deposits of the fundus, either peripheral or central retinoschisis, cystic macular edema, and retinal degeneration. Occasional findings include optic nerve atrophy. [3] [4] [5]
This condition has many complications associated with it.
One of the most important ones are the ones associated with the ocular abnormalities characteristic of this condition, for example: cataract, retinal degeneration, and nightblindness. If they remain untreated, they can end up in severe vision impairment. [6] [7]
Goldmann–Favre syndrome patients are born with supernumerary blue cones, a decreased amount of red and green cones, and either total absence or very little amounts of functioning rods. This gives rise to the increase of blue light sensitivity characteristic of this condition. [8] [9]
This condition is caused by autosomal recessive mutations in the NR2E3 gene, located in chromosome 15. [10] [11] [12] [13]
Diagnosis of Goldmann–Favre syndrome can be made through ocular investigations (such as fundus autofluorescence, electroretinogram and opticam coherence tomography) alongside sequencing of the NR2E3 gene to check for mutations. [14]
Although no effective treatment for this condition is known, cataract surgery and low vision aids can be used. [15]
Treatment methods such as 810 nm diode laser ablation, bevacizumab and/or triamcinolone acetonide provided control to some of the ocular symptoms in a 64-year-old female patient. [16]
According to OrphaNet, this condition occurs in less than 1 out of every million people. [3]
The following list comprises some of the cases which are listed on the OMIM page for this condition:
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
Goldmann-Favre syndrome | |
---|---|
![]() | |
Specialty | Medical genetics |
Symptoms | Ocular |
Usual onset | Childhood |
Duration | Lifelong |
Causes | Genetic mutation |
Risk factors | Being of Jewish descent, being part of a consanguineous family |
Prevention | none |
Prognosis | Medium |
Frequency | rare |
Deaths | - |
Goldmann–Favre syndrome is a rare genetic disorder characterized by early-onset nyctalopia, decreased visual acuity, and abnormal findings of the fundus. [1] It is a type of progressive vitreotapetoretinal degeneration. [2]
This condition is more common among Marrano Jews living in Belmonte, Portugal.
Individuals with this condition usually start showing signs of nyctalopia (also known as night-blindness) during their early childhood, increase in sensitivity to blue light, progressive decrease of visual acuity in both eyes, cataract, peripheral vision loss, vitreous liquefaction and detachment, clumped pigment deposits of the fundus, either peripheral or central retinoschisis, cystic macular edema, and retinal degeneration. Occasional findings include optic nerve atrophy. [3] [4] [5]
This condition has many complications associated with it.
One of the most important ones are the ones associated with the ocular abnormalities characteristic of this condition, for example: cataract, retinal degeneration, and nightblindness. If they remain untreated, they can end up in severe vision impairment. [6] [7]
Goldmann–Favre syndrome patients are born with supernumerary blue cones, a decreased amount of red and green cones, and either total absence or very little amounts of functioning rods. This gives rise to the increase of blue light sensitivity characteristic of this condition. [8] [9]
This condition is caused by autosomal recessive mutations in the NR2E3 gene, located in chromosome 15. [10] [11] [12] [13]
Diagnosis of Goldmann–Favre syndrome can be made through ocular investigations (such as fundus autofluorescence, electroretinogram and opticam coherence tomography) alongside sequencing of the NR2E3 gene to check for mutations. [14]
Although no effective treatment for this condition is known, cataract surgery and low vision aids can be used. [15]
Treatment methods such as 810 nm diode laser ablation, bevacizumab and/or triamcinolone acetonide provided control to some of the ocular symptoms in a 64-year-old female patient. [16]
According to OrphaNet, this condition occurs in less than 1 out of every million people. [3]
The following list comprises some of the cases which are listed on the OMIM page for this condition:
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)