biology

Goldmann–Favre syndrome

Goldmann–Favre syndrome is a biology topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand Goldmann–Favre syndrome rather than just read about it. In short: Goldmann–Favre syndrome is a rare genetic disorder characterized by early-onset nyctalopia, decreased visual acuity, and abnormal findings of the fundus. It is a type of progressive vitreotapetoretinal degeneration.

Key takeaways

Goldmann–Favre syndrome belongs to biology; place it in that map before memorising details.
Learn the definition first, then one example that makes the definition concrete.
Connect Goldmann–Favre syndrome to a quantity you can measure, compute or draw — that is where exam questions come from.
Reproduce the core statement of Goldmann–Favre syndrome from memory before moving on to harder problems.

Reference excerpt

Goldmann–Favre syndrome is a rare genetic disorder characterized by early-onset nyctalopia, decreased visual acuity, and abnormal findings of the fundus. It is a type of progressive vitreotapetoretinal degeneration. This condition is more common among Marrano Jews living in Belmonte, Portugal.

Signs and symptoms 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.

Complications 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.

Causes 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. This condition is caused by autosomal recessive mutations in the NR2E3 gene, located in chromosome 15.

Diagnosis 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.

Treatment Although no effective treatment for this condition is known, cataract surgery and low vision aids can be used. 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.

Prevalence According to OrphaNet, this condition occurs in less than 1 out of every million people.

Cases The following list comprises some of the cases which are listed on the OMIM page for this condition:

Favre et al. describes 2 French teenage siblings of the opposite sex. Out of the 2, the brother (who was 16 years old) was affected the most. He was said to have difficulties walking inside his mother's apartment as soon as night fell from childhood (nightblindness), his visual acuity was 0.3 in his left eye and 0.4 in his right eye. He also had other findings, such as abnormal taste buds, "slightly marbled-shaped macula", localized areas of chorioretinal atrophy alongside pigmentation resembling retinitis pigmentosa, etc. J E MacVicar et al. describes 2 brothers, product of a consanguineous marriage, who exhibited signs of "idiopathic retinoschisis and early hemeralopia, Goldmann-Favre type" alongside other symptoms such as an angiomatosis-like tumor present in one brother and a lamellar macular hole in the other brother. They also described two unaffected females with "grouped-like" pigmentation that were possibly heterozygotes for the gene mutation. Hood et al. describes three patients with the condition and analyze their ERGs to find an abundance of S cones that replace and thus reduce L/M cones. S Gerber et al. describes a large consanguineous population of Crypto Jews living in Portugal. This specific population (also known as Belmonte Jews) belongs to a larger group of people across Portugal (marranos) who are the descendants of Spanish Jews who escaped to Portugal and had to convert from their religion in order to protect their livelihood. The population studied in this case report was from Belmonte, an isolated mountainous region in Beira-Baixa, Portugal which houses the last remaining population of practicing marranos. They mapped this condition to a mutation in chromosome 15q22-24. Haplotype studies suggested this mutation occurred in a period of time after this population settled into the area.

References

Illustrations

Worked examples

Example 1 — a first encounter with Goldmann–Favre syndrome

Start with the simplest possible case. Write down what Goldmann–Favre syndrome claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In biology, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to Goldmann–Favre syndrome before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about Goldmann–Favre syndrome ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of Goldmann–Favre syndrome

In research: Goldmann–Favre syndrome appears in biology research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses Goldmann–Favre syndrome in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: Goldmann–Favre syndrome is common in secondary-school and first-year university syllabi. It links to neighbouring topics Autosomal recessive disorders, Genetic syndromes, Rare genetic syndromes, so understanding it makes those chapters shorter.
In everyday life: Look for Goldmann–Favre syndrome outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

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How to study Goldmann–Favre syndrome in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what Goldmann–Favre syndrome means in your own words.
Compare your version with the excerpt and mark what you missed.
Work through the three examples above with pen and paper.
Explain Goldmann–Favre syndrome out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is Goldmann–Favre syndrome in simple terms?

Why does Goldmann–Favre syndrome matter?

Because it connects several biology ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study Goldmann–Favre syndrome?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on Goldmann–Favre syndrome.