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.

Patients with Reis-Bücklers dystrophy develop a reticular pattern of cloudiness in the cornea. This cloudiness, or opacity, usually appears in both eyes (bilaterally) in the upper cornea by 4 or 5 years of age. The opacity elevates the corneal epithelium, eventually leading to corneal erosions that prompt attacks of ocular hyperemia, pain, and photophobia. These recurrent painful corneal epithelial erosions often begin as early as 1 year of age.

With time, the corneal changes progress into opacities in Bowman's membrane, which gradually becomes more irregular and more dense. Significant vision loss may occur. However, vascularization of the cornea is not present.

Posterior Polymorphous Corneal Dystrophy (PPCD; sometimes also "Schlichting dystrophy") is a type of corneal dystrophy, characterised by changes in Descemet's membrane and endothelial layer. Symptoms mainly consist of decreased vision due to corneal edema. In some cases they are present from birth, other patients are asymptomatic. Histopathological analysis shows that the cells of endothelium have some characteristics of epithelial cells and have become multilayered. The disease was first described in 1916 by Koeppe as "keratitis bullosa interna".

PPCD type 2 is linked to the mutations in COL8A2, and PPCD type 3 mutations in ZEB1 gene, but the underlying genetic disturbance in PPCD type 1 is unknown.

The main pathological features in this dystrophy are mulberry-shaped gelatinous masses beneath the corneal epithelium. Patients suffer from photophobia, foreign body sensation in the cornea. The loss of vision is severe. The amyloid nodules have been found to contain lactoferrin, but the gene encoding lactoferrin is unaffected.

This form of corneal amyloidosis appears to be more frequent in Japan.

Main differential diagnosis include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases, and several skin diseases (X-linked ichthyosis, keratosis follicularis spinolosa decalvans).

Historically, an accumulation of small gray variable shaped punctate opacities of variable shape in the central deep corneal stroma immediately anterior to Descemet membrane were designated deep filiform dystrophy and cornea farinata because of their resemblance to commas, circles, lines, threads (filiform), flour (farina) or dots. These abnormalities are now known to accompany X-linked ichthyosis, steroid sulfatase deficiency, caused by steroid sulfatase gene mutations and are currently usually not included under the rubric of the corneal dystrophies.

In the past, the designation vortex corneal dystrophy (corneal verticillata) was applied to a corneal disorder characterized by the presence of innumerable tiny brown spots arranged in curved whirlpool-like lines in the superficial cornea. An autosomal dominant mode of transmission was initially suspected, but later it was realized that these individuals were affected hemizygous males and asymptomatic female carriers of an X-linked systemic metabolic disease caused by a deficiency of α-galactosidase, known as Fabry disease.

Reis-Bücklers corneal dystrophy, also known as corneal dystrophy of Bowman layer, type I, is a rare, corneal dystrophy of unknown cause, in which the Bowman's layer of the cornea undergoes disintegration. The disorder is inherited in an autosomal dominant fashion, and is associated with mutations in the gene TGFB1.

Reis-Bücklers dystrophy causes a cloudiness in the corneas of both eyes, which may occur as early as 1 year of age, but usually develops by 4 to 5 years of age. It is usually evident within the first decade of life. This cloudiness, or opacity, causes the corneal epithelium to become elevated, which leads to corneal opacities. The corneal erosions may prompt attacks of redness and swelling in the eye (ocular hyperemia), eye pain, and photophobia. Significant vision loss may occur.

Reis-Bücklers dystrophy is diagnosed by clinical history physical examination of the eye. Labs and imaging studies are not necessary. Treatment may include a complete or partial corneal transplant, or photorefractive keratectomy.

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.

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.

Patients may complain of severe problems with dry eyes, or with visual obscurations. It can also be asymptomatic, and only discovered because of subtle lines and marks seen during an eye exam.

EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Findings are variable and can change with time. While the disorder is usually asymptomatic, up to 10% of patients may have recurrent corneal erosions, usually beginning after age 30; conversely, 50% of patients presenting with idiopathic recurrent erosions have evidence of this dystrophy.

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.

Corneal dystrophy may not significantly affect vision in the early stages. However, it does require proper evaluation and treatment for restoration of optimal vision. Corneal dystrophies usually manifest themselves during the first or second decade but sometimes later. It appears as grayish white lines, circles, or clouding of the cornea. Corneal dystrophy can also have a crystalline appearance.

There are over 20 corneal dystrophies that affect all parts of the cornea. These diseases share many traits:

- They are usually inherited.

- They affect the right and left eyes equally.

- They are not caused by outside factors, such as injury or diet.

- Most progress gradually.

- Most usually begin in one of the five corneal layers and may later spread to nearby layers.

- Most do not affect other parts of the body, nor are they related to diseases affecting other parts of the eye or body.

- Most can occur in otherwise totally healthy people, male or female.

Corneal dystrophies affect vision in widely differing ways. Some cause severe visual impairment, while a few cause no vision problems and are diagnosed during a specialized eye examination by an ophthalmologist. Other dystrophies may cause repeated episodes of pain without leading to permanent loss of vision.

The diagnosis of POHS is based on the clinical triad of multiple white, atrophic choroidal

scars, peripapillary pigment changes (dark spots around optic disc of the eye), and a maculopathy caused by choroidal neovascularization.

Completely distinct from POHS, acute ocular histoplasmosis may rarely occur in immunodeficiency.

Fleck corneal dystrophy, also known as "Francois-Neetens speckled corneal dystrophy", is a rare form of corneal dystrophy. It is caused by mutations in PIKFYVE gene. Small opacities, some of which resemble "flecks", are scattered in the stroma of the patients. Other opacities look more like snowflakes or clouds. The disease is non-progressive and in most cases asymptomatic, with mild photophobia reported by some patients. In a single case report, a corneal transplantation was performed for concurrent keratoconus, and at 10 years follow-up there was still no evidence of the inclusions in the stroma.

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.

To clarify whether Thiel–Behnke corneal dystrophy is a separate entity from Reis-Bucklers corneal dystrophy, Kuchle et al. (1995) examined 28 corneal specimens with a clinically suspected diagnosis of corneal dystrophy of the Bowman layer by light and electron microscopy and reviewed the literature and concluded that 2 distinct autosomal dominant corneal dystrophy of Bowman layer (CBD) exist and proposed the designation CDB type I (geographic or 'true' Reis-Bucklers dystrophy) and CDB type II (honeycomb-shaped or Thiel–Behnke dystrophy). Visual loss is significantly greater in CDB I, and recurrences after corneal transplantation seem to be earlier and more extensive in CDB I.

Epithelial basement membrane dystrophy (EBMD), also known as map-dot-fingerprint dystrophy and Cogans's microcystic dystrophy, is a disorder of the eye that can cause pain and dryness.

It is sometimes included in the group of corneal dystrophies. It diverges from the formal definition of corneal dystrophy in being in most cases non-familial. It also has a fluctuating course, while for a typical corneal dystrophy the course is progressive. When it is considered part of this group, it is the most common type of corneal dystrophy.

Gelatinous drop-like corneal dystrophy, also known as amyloid corneal dystrophy, is a rare form of corneal dystrophy. The disease was described by Nakaizumi as early as 1914.

Filamentous opacities appear in the cornea with intertwining delicate branching processes. During an eye examination, the doctor sees these deposits in the stroma as clear, comma-shaped overlapping dots and branching filaments, creating a lattice effect. Over time, the lattice lines will grow opaque and involve more of the stroma. They will also gradually converge, giving the cornea a cloudiness that may also reduce vision. The disease is bilateral, usually noted before the end of the first decade of life. Although lattice dystrophy can occur at any time in life, the condition usually arises in children between the ages of two and seven.

In some people, these abnormal protein fibers can accumulate under the cornea's outer layer—the epithelium. This can cause erosion of the epithelium. This condition is known as recurrent epithelial erosion. These erosions alter the cornea's normal curvature, resulting in temporary vision problems, and expose the nerves that line the cornea, causing severe pain. Even the involuntary act of blinking can be painful.

In systemic cases, kidney failure, heart failure and neuropathy such as facial nerve palsy, laxity of the skin may be noted.

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.

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.

Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal dystrophy. It has no systemic manifestations, unlike the other type of the dystrophy, Lattice corneal dystrophy type II. Lattice corneal dystrophy was first described by Swiss ophthalmologist Hugo Biber in 1890.

Lattice dystrophy gets its name from an accumulation of amyloid deposits, or abnormal protein fibers, throughout the middle and anterior stroma.

Presumed ocular histoplasmosis syndrome (POHS) is a syndrome affecting the eye, which is characterized by peripheral atrophic chorioretinal scars, atrophy or scarring adjacent to the optic disc and maculopathy.

The loss of vision in POHS is caused by choroidal neovascularization.

Meesmann corneal dystrophy, also "Stocker-Holt dystrophy", is a type of corneal dystrophy and a keratin disease.

It is named for German ophthalmologist Alois Meesmann (1888-1969).

It is sometimes called "Meesmann-Wilke syndrome", after the joint contribution of Meesmann and Wilke.

Dry (nonexudative, > 80%)—deposition of yellowish extracellular material in and between bruch membrane and retinal pigment epithelium (“drusen”) with gradual loss in vision.

Wet (exudative, 10–15%)—rapid loss of vision due to bleeding secondary to choroidal neovascularization.

Hair growth on the head is noticeably less full than normal, and the hairs are very weak; the rest of the body shows normal hair.

The macular degeneration comes on slowly with deterioration of central vision, leading to a loss of reading ability. Those affected may otherwise develop in a completely healthy manner; life expectancy is normal.