Affected individuals commonly suffer from photophobia, nystagmus and achromatopsia. Other symptoms affecting vision may include night vision difficulties; optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white dot deposits or retinal pigment epithelium (RPE) alterations in the inferonasal retina; decreased foveal and retinal thickness; attenuation of retinal lamination; hyperreflectivity in the choroids (due to RPE and choriocapillaris atrophy); impairment of color vision; and progressive loss of vision with advancing age.

In line with ameleogenesis imperfecta, affected members may display teeth yellow-brown in colour, dysplastic, presenting numerous caries; reduced enamel layer prone to posteruptive failure; and abnormality of morphology involving dentine.

Onset occurs in the first decade, usually between ages 5 and 9. The disorder is progressive. Minute, gray, punctate opacities develop. Corneal sensitivity is usually reduced. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. Macular corneal dystrophy is very common in Iceland and accounts for almost one-third of all corneal grafts performed there.

The age of onset is in a child's infancy. Bilateral corneal opacification started in the second year of life and led to severe visual impairment. However, cornea surgery and replacement resulted in better vision.

Symptoms include a combination of spinocerebellar degeneration and corneal dystrophy. Mental retardation and slowly progressive cerebellar abnormalities were also diagnosed in patients. Other symptoms include corneal edema, thickening of Descemet membrane, and degenerative pannus. Abnormalities were found in muscle and sural nerves.

Oguchi disease present with nonprogressive night blindness since young childhood or birth with normal day vision, but they frequently claim improvement of light sensitivities when they remain for some time in a darkened environment.

On examination patients have normal visual fields but the fundos have a diffuse or patchy, silver-gray or golden-yellow metallic sheen and the retinal vessels stand out in relief against the background.

A prolonged dark adaptation of three hours or more, leads to disappearance of this unusual discoloration and the appearance of a normal reddish appearance. This is known as the Mizuo-Nakamura phenomena and is thought to be caused by the overstimulation of rod cells.

In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone. Further characteristics include:

- Seizures

- Delay in developmental

- Cardiac issues

- Swallowing difficulty

- Neurological problems

Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts. FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as well as various other malformations, notably micropolygyria. Children also experience delayed myelination in the brain.

Some symptoms consistent with Becker muscular dystrophy are:

Individuals with this disorder typically experience progressive muscle weakness of the leg and pelvis muscles, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs in the arms, neck, and other areas, but not as noticeably severe as in the lower half of the body.Calf muscles initially enlarge during the ages of 5-15 (an attempt by the body to compensate for loss of muscle strength), but the enlarged muscle tissue is eventually replaced by fat and connective tissue (pseudohypertrophy) as the legs become less used (with use of wheelchair).

Other conditions with similar appearing fundi include

- Cone dystrophy

- X-linked retinitis pigmentosa

- Juvenile macular dystrophy

These conditions do not show the Mizuo-Nakamura phenomenon.

Congenital stromal corneal dystrophy (CSCD), also called Witschel dystrophy, is an extremely rare, autosomal dominant form of corneal dystrophy. Only 4 families have been reported to have the disease by 2009. The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrills of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly.

Possible complications associated with MD are cardiac arrhythmias.(BMD) Becker muscular dystrophy also demonstrates the following:

- Mental impairment (less common in BMD than it is in DMD.)

- Pulmonary failure

- Pneumonia

Since the "CHM" gene is located on the X chromosome, symptoms are seen almost exclusively in men. While there are a few exceptions, female carriers have a noticeable lack of pigmentation in the RPE but do not experience any symptoms. Female carriers have a 50% chance of having either an affected son or a carrier daughter, while a male with choroideremia will have all carrier daughters and unaffected sons.

Even though the disease progression can vary significantly, there are general trends. The first symptom many individuals with choroideremia notice is a significant loss of night vision, which begins in youth. Peripheral vision loss occurs gradually, starting as a ring of vision loss, and continuing on to "tunnel vision" in adulthood. Individuals with choroideremia tend to maintain good visual acuity into their 40s, but eventual lose all sight at some point in the 50-70 age range. A study of 115 individuals with choroideremia found that 84% of patients under the age of 60 had a visual acuity of 20/40 or better, while 33% of patients over 60 years old had a visual acuity of 20/200 or worse. The most severe visual acuity impairment (only being able to count fingers or worse) did not occur until the seventh decade of life. The same study found the rate of visual acuity loss to be about 1 eye chart row per 5 years.

Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an inbred, Arab family living within the Gaza Strip.

The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:

- Muscle weakness

- Difficulty walking

- Contractures (neck)

- Joint looseness

Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally resessive disease that was first described in 1985. Three cases are known: all are sisters in the same family.

The symptoms of an individual with Limb-girdle Muscular Dystrophy (LGMD) generally has great difficulty walking, going both up and down stairs and raising from a chair. The inability to bend over or squat down is also present. Because of these difficulties, falling can occur on a regular basis. Lifting certain objects, as well as difficulty extending your arms out or above your head, varies from difficult to impossible depending on the severity. Eventually the ability to walk/run deteriorates.

Further "presentations" an individual with LGMD might have are:

The disease inevitably gets worse over time, although progression is more rapid in some patients than others. Eventually the disease can affect other muscles such as the ones located in the face. The disease commonly leads to dependence on a wheelchair within years of symptom onset, but there is high inter-patient variability, with some patients maintaining mobility.

The muscle weakness is generally symmetric, proximal, and slowly progressive. In most cases, pain is not present with LGMD, and mental function is not affected. LGMD can begin in childhood, adolescence, young adulthood or even later, the age of onset is usually between 10 and 30. Both genders are affected equally, when limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.There is no sensory neuropathy or autonomic or visceral dysfunction at presentation.

Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar Fehr (1871-1959), is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. The condition was first described by Arthur Groenouw in 1890.

Lisch epithelial corneal dystrophy (LECD), also known as band-shaped and whorled microcystic dystrophy of the corneal epithelium, is a rare form of corneal dystrophy first described in 1992 by Lisch et al. In one study it was linked to chromosomal region Xp22.3, with as yet unknown candidate genes.

The main features of this disease are bilateral or unilateral gray band-shaped and feathery opacities. They sometimes take on a form of a whirlpool, repeating the known pattern of corneal epithelium renewal. Abrasion of the epithelium in 3 patients brought only temporary relief, with abnormal epithelium regrowth in several months.

Epithelial cells in the zones of opacity were shown to have diffuse cytoplasmic vacuoles with as yet unestablished content.

Posterior amorphous corneal dystrophy (PACD) is a rare form of corneal dystrophy. It is not yet linked to any chromosomal locus. The first report describing this dystrophy dates back to 1977.

Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients, fifteen cases were first described on 1960 by Fukuyama.

FCMD mainly affects the brain, eyes, and muscles, in particular, the disorder affects development of the skeletal muscles leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the "FCMD" gene). Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan. One out of every 90 people in Japan is a heterozygous carrier.

Subepithelial mucinous corneal dystrophy (SMCD) is a rare form of corneal dystrophy. It was first described in 1993 by Feder et al. Anterior to Bowman layer, deposits of glycosaminoglycan were detected and identified as chondroitin-4-sulfate and dermatan sulfate.

Thiel–Behnke dystrophy, or Corneal dystrophy of Bowman layer, type II, is a rare form of corneal dystrophy affecting the layer that supports corneal epithelium.

The dystrophy was first described in 1967 and initially suspected to denote the same entity as the earlier-described Reis-Bucklers dystrophy, but following a study in 1995 by Kuchle et al. the two look-alike dystrophies were deemed separate disorders.

Most infants with CMD will display some progressive muscle weakness or muscle wasting (atrophy), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as "hypotonia", or lack of muscle tone, which can make an infant seem unstable.

Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of the more rarer forms of CMD can result in significant learning disabilities.

In terms of the signs (and symptoms) of oculopharyngeal muscular dystrophy would be consistent with the following:

Though the aforementioned signs/symptoms are the most common, there have been cases though rare, where the peripheral nervous system has had involvement with significant reduction of myelinated fibers

In homozygous cases, this muscular dystrophy is severe and starts earlier in the affected individuals life.

The initial retinal degenerative symptoms of retinitis pigmentosa are characterized by decreased night vision (nyctalopia) and the loss of the mid-peripheral visual field. The rod photoreceptor cells, which are responsible for low-light vision and are orientated in the retinal periphery, are the retinal processes affected first during non-syndromic forms of this disease. Visual decline progresses relatively quickly to the far peripheral field, eventually extending into the central visual field as tunnel vision increases. Visual acuity and color vision can become compromised due to accompanying abnormalities in the cone photoreceptor cells, which are responsible for color vision, visual acuity, and sight in the central visual field. The progression of disease symptoms occurs in a symmetrical manner, with both the left and right eyes experiencing symptoms at a similar rate.

A variety of indirect symptoms characterize retinitis pigmentosa along with the direct effects of the initial rod photoreceptor degeneration and later cone photoreceptor decline. Phenomena such as photophobia, which describes the event in which light is perceived as an intense glare, and photopsia, the presence of blinking or shimmering lights within the visual field, often manifest during the later stages of RP. Findings related to RP have often been characterized in the fundus of the eye as the "ophthalamic triad". This includes the development of (1) a mottled appearance of the retinal pigment epithelium (RPE) caused by bone spicule formation, (2) a waxy appearance of the optic nerve, and (3) the attentuation of blood vessels in the retina.

Non-syndromic RP usually presents a variety of the following symptoms:

- Night blindness

- Tunnel vision (due to loss of peripheral vision)

- Latticework vision

- Photopsia (blinking/shimmering lights)

- Photophobia (aversion to glare)

- Development of bone spicules in the fundus

- Slow adjustment from dark to light environments and vice versa

- Blurring of vision

- Poor color separation

- Loss of central vision

- Eventual blindness

The X-linked varieties of congenital stationary night blindness (CSNB) can be differentiated from the autosomal forms by the presence of myopia, which is typically absent in the autosomal forms. Patients with CSNB often have impaired night vision, myopia, reduced visual acuity, strabismus, and nystagmus. Individuals with the complete form of CSNB (CSNB1) have highly impaired rod sensitivity (reduced ~300x) as well as cone dysfunction. Patients with the incomplete form can present with either myopia or hyperopia.

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.