What are the other Names for this Condition? (Also known as/Synonyms)

• Mackay Shek Carr Syndrome
• Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma
• Retinal Degeneration, Nanophthalmos, and Glaucoma

What is Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome? (Definition/Background Information)

• Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma
• It has been described in seven members of one family
• Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive

(Source: Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome? (Age and Sex Distribution)

• Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected; although, all the cases (less than 10) have been so far only described in a single family
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome can be inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome? (Etiology)

• The exact cause of development of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome is unknown
• It is believed to be a genetic disorder that is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome?

The signs and symptoms of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome may include:

• Abnormality of metabolism/homeostasis
• Cystoid macular degeneration
• Glaucoma
• Macular atrophy
• Nyctalopia
• Pigmentary retinal degeneration
• Retinal degeneration
• Slit-like anterior chamber angles in children

Very frequently present symptoms in 80-99% of the cases:

• Optic atrophy
• Myopia
• Microphthalmia
• Abnormality of retinal pigmentation
• Abnormal electroretinogram

Frequently present symptoms in 30-79% of the cases: Visual impairment

Occasionally present symptoms in 5-29% of the cases: Nystagmus

(Source: Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome Diagnosed?

Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome?

• Visual impairment is the most significant complication of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
• Complications may occur with or without treatment, and in some cases, due to treatment also

How is Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome Treated?

There is no cure for Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome be Prevented?

Currently, Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome? (Outcomes/Resolutions) 

• The prognosis of Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/