Retinitis pigmentosa is the leading cause of inherited blindness, with approximately 1/4,000 individuals experiencing the non-syndromic form of their disease within their lifetime. It is estimated that 1.5 million people worldwide are currently affected. Early onset RP occurs within the first few years of life and is typically associated with syndromic disease forms, while late onset RP emerges from early to mid-adulthood.

Autosomal dominant and recessive forms of retinitis pigmentosa affect both male and female populations equally; however, the less frequent X-linked form of the disease affects male recipients of the X-linked mutation, while females usually remain unaffected carriers of the RP trait. The X-linked forms of the disease are considered severe, and typically lead to complete blindness during later stages. In rare occasions, a dominant form of the X-linked gene mutation will affect both males and females equally.

Due to the genetic inheritance patterns of RP, many isolate populations exhibit higher disease frequencies or increased prevalence of a specific RP mutation. Pre-existing or emerging mutations that contribute to rod photoreceptor degeneration in retinitis pigmentosa are passed down through familial lines; thus, allowing certain RP cases to be concentrated to specific geographical regions with an ancestral history of the disease. Several hereditary studies have been performed to determine the varying prevalence rates in Maine (USA), Birmingham (England), Switzerland (affects 1/7000), Denmark (affects 1/2500), and Norway. Navajo Indians display an elevated rate of RP inheritance as well, which is estimated as affecting 1 in 1878 individuals. Despite the increased frequency of RP within specific familial lines, the disease is considered non-discriminatory and tends to equally affect all world populations.

Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.

The condition is more frequent in individuals of Japanese ethnicity.

Choroideremia (; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss, and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.

Choroideremia is caused by a loss-of-function mutation in the "CHM" gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. While the complete mechanism of disease is not fully understood, the lack of a functional protein in the retina results in cell death and the gradual deterioration of the choroid, retinal pigment epithelium (RPE), and retinal photoreceptor cells.

As of 2017, there is no treatment for choroideremia; however, retinal gene therapy clinical trials have demonstrated a possible treatment.

RP may be:

(1) Non-syndromic, that is, it occurs alone, without any other clinical findings,

(2) Syndromic, with other neurosensory disorders, developmental abnormalities, or complex clinical findings, or

(3) Secondary to other systemic diseases.

- RP combined with deafness (congenital or progressive) is called Usher syndrome.

- Alport's syndrome is associated with RP and an abnormal glomerular-basement membrane leading nephrotic syndrome and inherited as X-linked dominant.

- RP combined with ophthalmoplegia, dysphagia, ataxia, and cardiac conduction defects is seen in the mitochondrial DNA disorder Kearns-Sayre syndrome (also known as Ragged Red Fiber Myopathy)

- RP combined with retardation, peripheral neuropathy, acanthotic (spiked) RBCs, ataxia, steatorrhea, is absence of VLDL is seen in abetalipoproteinemia.

- RP is seen clinically in association with several other rare genetic disorders (including muscular dystrophy and chronic granulomatous disease) as part of McLeod syndrome. This is an X-linked recessive phenotype characterized by a complete absence of XK cell surface proteins, and therefore markedly reduced expression of all Kell red blood cell antigens. For transfusion purposes these patients are considered completely incompatible with all normal and K0/K0 donors.

- RP associated with hypogonadism, and developmental delay with an autosomal recessive inheritance pattern is seen with Bardet-Biedl syndrome

Other conditions include neurosyphilis, toxoplasmosis and Refsum's disease.

The severity and prognosis vary with the type of mutation involved.

The incidence and prevalence of PMD are unknown, and no studies have yet investigated its prevalence or incidence. However, it is generally agreed that PMD is a very rare condition. Some uncertainty regarding the incidence of PMD may be attributed to its confusion with keratoconus. PMD is not linked to race or age, although most cases present early in life, between 20 and 40 years of age. While PMD is usually considered to affect men and women equally, some studies suggest that it may affect men more frequently.

Several diseases have been observed in patients with PMD. However, no causal relationships have been established between any of the associated diseases and the pathogenesis of PMD. Such diseases include: chronic open-angle glaucoma, retinitis pigmentosa, retinal lattice degeneration, scleroderma, kerato-conjunctivitis, eczema, and hyperthyroidism.

While choroideremia is an ideal candidate for gene therapy there are other potential therapies that could restore vision after it has been lost later in life. Foremost of these is stem cell therapy. A clinical trial published in 2014 found that a subretinal injection of human embryonic stem cells in patients with age-related macular degeneration and Stargardt disease was safe and improved vision in most patients. Out of 18 patients, vision improved in 10, improved or remained the same in 7, and decreased in 1 patient, while no improvement was seen in the untreated eyes. The study found "no evidence of adverse proliferation, rejection, or serious ocular or systemic safety issues related to the transplanted tissue." A 2015 study used CRISPR/Cas9 to repair mutations in patient-derived induced pluripotent stem cells that cause X-linked retinitis pigmentosa. This study suggests that a patient's own repaired cells could be used for therapy, reducing the risk of immune rejection and ethical issues that come with the use of embryonic stem cells.

Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1, is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.

Retinitis is a genotypic disease which entails severe phenotypic representation. Types of Retinitis are currently considered the most complex forms of retinal disease. Such complexity in disease and incurability results from its complex mechanism. Retinitis is controlled by a single gene which can be inherited via an autosomal dominant, autosomal recessive, or X-linked gene. In many cases, individuals with Retinitis have parents and/or relatives who are unaffected by this disease.

There are two types of retinitis: Retinitis pigmentosa (RP) and cytomegalovirus (CMV) retinitis. Both conditions result in the swelling and damage to the retinitis. However, the key difference in both these conditions is that Retinitis pigmentosa is a genetic eye disease that you inherit from one or both of your parents. On the other hand, CMV retinitis develops from a viral infection in the retina. Although there is no cure for this disease, there are steps you can take to protect your eyes from worsening. Supplements can slow the progression of the disease and alleviate symptoms temporarily. Research also shows that vitamin A, lutein, and omega-3 fatty acids also help alleviate symptoms.

This condition is linked to the X chromosome.

- Siberian Husky - Night blindness by two to four years old.

- Samoyed - More severe disease than the Husky.

One cause of the White Dot Syndromes as suggested by Gass involves viral or infectious agents. Specifically pertaining to the ‘AZOOR complex,’ Gass has postulated that a virus may enter the retina at the optic head and the infection may spread from one photoreceptor to another. Some unexplained features include the development of more than one disease in the same patient and the majority of cases occurring in females.

According to Becker’s common genetic hypothesis, “unlike mendelian genetic disorders, common autoimmune and inflammatory diseases arise from combinatorial interactions of common non-disease specific loci, disease specific loci, and specific environmental triggers.” An important aspect of this hypothesis pertains to the existence of common non-disease genes that predispose patients to autoimmune diseases. Jampol and Becker insinuate that ‘common susceptibility genes’ are present in patients affected by white dot syndromes. The presence of environmental triggers, such as viral infections, immunizations, and stress, and interactions with other genes contribute to the development of the white dot syndromes. Additionally, Jampol and Becker hypothesize that the predisposing genetic loci can be identified.

Gass points to a lack of evidence in support of the Becker theory. Instead, Gass highlights that although evidence indicates that patients with AZOOR have a greater chance of developing autoimmune diseases, this does not mean that the AZOOR complex of disorders are themselves autoimmune diseases. This is supported by the difficulty in detecting “retinal autoantibodies” in AZOOR patients.

Two other diseases which also present with white dots on the fundus are retinitis punctata albescens and fundus albipunctatus. These diseases are not white dot syndromes, but have much more defined etiology. Retinitis punctata albescens is caused by mutations in RLBP1, the gene for retinaldehyde binding protein 1. In comparison, fundus albipunctatus is caused by mutations in RDH5 gene for an 11-cis-RDH in RPE cells.

Cytomegalovirus (a type of herpes virus) is what causes cytomegalovirus retinitis. Other types of herpes viruses include herpes simplex viruses and Epstein-Barr virus. Once an individual is infected with these viruses they stay in the body for life. What triggers the virus to reactivate are the following (though CMV can also be congenital).

- Leukemia

- AIDS

- Immunosuppressive chemotherapy

Commonly affected breeds:

- Akita - Symptoms at one to three years old and blindness at three to five years old. Selective breeding has greatly reduced the incidence of this disease in this breed.

- Miniature longhaired Dachshund - Symptoms at six months old.

- Papillon - Slowly progressive with blindness at seven to eight years old.

- Tibetan Spaniel - Symptoms at three to five years old.

- Tibetan Terrier - PRA3/RCD4 disease of middle age dogs. http://www.ttca-online.org/html/Petersen-Jones_PRA_article.pdf

- Samoyed - Symptoms by three to five years old.

Visual function declines as a result of the irregular corneal shape, resulting in astigmatism, and causing a distortion in vision. Deterioration can become severe over time.

Revesz syndrome has so far been observed only in children. There is not much information about the disease because of its low frequency in general population and under reporting of cases.

DUSN may be caused by a helminthic infection with Toxocara canis, Baylisascaris procyonis, or Ancylostoma caninum. The characteristic lesions are believed to result from a single nematode migrating within the subretinal space. Although previously thought to be endemic in some areas, that belief was likely due to under awareness. DUSN has been diagnosed in patients in many countries and climates including America, Brazil, China and India.

Kearns–Sayre syndrome occurs spontaneously in the majority of cases. In some cases it has been shown to be inherited through mitochondrial, autosomal dominant, or autosomal recessive inheritance. There is no predilection for race or sex, and there are no known risk factors. As of 1992 there were only 226 cases reported in published literature.

Retinal degeneration is the deterioration of the retina caused by the progressive and eventual death of the cells of the retina. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P. (retrolental fibroplasia/ retinopathy of prematurity), or disease (usually hereditary). These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.

Inherited retinal degenerative disorders in humans exhibit genetic and phenotypic heterogeneity in their underlying causes and clinical outcomes*. These retinopathies affect approximately one in 2000 individuals worldwide. A wide variety of causes have been attributed to retinal degeneration, such as disruption of genes that are involved in phototransduction, biosynthesis and folding of the rhodopsin molecule, and the structural support of the retina. Mutations in the rhodopsin gene account for 25% to 30% (30% to 40% according to) of all cases of autosomal dominant retinitis pigmentosa (adRP) in North America. There are many mechanisms of retinal degeneration attributed to rhodopsin mutations or mutations that involve or affect the function of rhodopsin. One mechanism of retinal degeneration is rhodopsin overexpression. Another mechanism, whereby a mutation caused a truncated rhodopsin, was found to affect rod function and increased the rate of photoreceptor degeneration.

- *For example, a single peripherin/RDS splice site mutation was identified as the cause of retinopathy in eight families; the phenotype in these families ranged from retinitis pigmentosa to macular degeneration.

Neuropathy, ataxia, and retinitis pigmentosa is a condition related to changes in mitochondrial DNA. Mutations in the "MT-ATP6" gene cause neuropathy, ataxia, and retinitis pigmentosa. The "MT-ATP6" gene provides instructions for making a protein that is essential for normal mitochondrial function. Through a series of chemical reactions, mitochondria use oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production. Mutations in the "MT-ATP6" gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP.

This condition is inherited in a pattern reflecting its location in mitochondrial DNA, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. The severity of some mitochondrial disorders is associated with the percentage of mitochondria in each cell that has a particular genetic change. Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. When this mutation is present in a higher percentage of a person's mitochondria—greater than 90 percent to 95 percent—it causes a more severe condition known as maternally inherited Leigh syndrome. Because these two conditions result from the same genetic changes and can occur in different members of a single family, researchers believe that they may represent a spectrum of overlapping features instead of two distinct syndromes.

White dot syndromes are inflammatory diseases characterized by the presence of white dots on the fundus, the interior surface of the eye. The majority of individuals affected with white dot syndromes are younger than fifty years of age. Some symptoms include blurred vision and visual field loss. There are many theories for the etiology of white dot syndromes including infectious, viral, genetics and autoimmune.

Classically recognized white dot syndromes include:

- Acute posterior multifocal placoid pigment epitheliopathy (APMPPE)

- Birdshot chorioretinopathy

- Multiple evanescent white dot syndrome (MEWDS)

- Acute zonal occult outer retinopathy (AZOOR)

- Multifocal choroiditis and panuveitis (MCP)

- Punctate inner choroiditis (PIC)

- Serpiginous choroiditis

Human cytomegalovirus (HCMV or CMV) is a DNA virus in the family "Herpesviridae" known for producing large cells with nuclear and cytoplasmic inclusions, CMV infects around 40% of the population worldwide.

Those areas infected by cytomegalovirus have cells evolve to necrosis, though inflammation within the retina is not great.

Rhegmatogenous retinal detachments can occur following the development of holes in areas of healed retinitis (retina may be atrophic). Proliferative vitreoretinopathy has been observed in cases of retinal detachment.

Affected males develop generalized reticular hyper pigmentation in early childhood.

Hair often looks bedraggled or brushed backwards, hanging low on the forehead.

Among the associated extracutaneous manifestations are described:

- Respiratory infections

- Dyskeratosis corneal photophobia

- Hypohidrosis with large deficit of thermoregulation

- Growth retardation

- Gastrointestinal disorders

- Kidney disease

- Kidney stones

- Urinary infections

- Webbed feet or hands

- Electrolyte imbalance

- Retinitis pigmentosa

- Lymphoedema

- Thyroid abnormalities

Each patient shows some of the symptoms listed above. Not every sick person will show all of the listed symptoms.

In females the disease is characterized by skin rashes linear hyper pigmentation following the Blaschko's lines, morphologically similar to stage 3 pigment incontinence. There are no systemic manifestations associated with XLPDR in females.

X-linked reticulate pigmentary disorder (also known as "familial cutaneous amyloidosis", "Partington amyloidosis", "Partington cutaneous amyloidosis", "Partington syndrome type II", "reticulate pigmentary disorder", and "X-linked reticulate pigmentary disorder with systemic manifestations") is a cutaneous condition that has been described in adult women that had linear streaks of hyperpigmentation and in which male patients manifested a reticulated mottled brown pigmentation of the skin, which, on biopsy, demonstrated dermal deposits of amyloid.

The syndrome is also referred with the acronym X-Linked-PDR or even XLPRD.It's a very rare disease, genetically determined, with a chronic course.

It was characterized in 1981. Mutation of the "POLA1" gene leads to loss of expression of the catalytic subunit of DNA polymerase-α and is responsible for XLPDR. Loss of POLA1 expression results in reduced levels of RNA:DNA hybrids in the cytosol and unexpectedly triggers aberrant immune responses (e.g. type I interferon production) which at least in part can account for the symptoms associated with XLPDR.

Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, or dystrophia retinae dysacusis syndrome, is an extremely rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is a leading cause of deafblindness and is at present incurable.

Usher syndrome is classed into three subtypes according to onset and severity of symptoms. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern.