Hereditary dystrophy of the retina

Progressing congenital dystrophy

This is a heterogeneous group of rare diseases. In patients with pure cone dystrophy, only the function of the cone system suffers. With cone-rod dystrophy, the function of the rod system suffers, but to a lesser extent. In many patients with dysfunction of the cone system at the beginning of the disease, disorders of the rod system are attached, therefore the term "cone-rod-shaped dystrophy" is more correct.

Type of inheritance in most cases sporadic; Of the remaining, autosomal dominant, more rarely autosomal recessive, linked to the X chromosome.

It manifests itself to 1-3 decades of life by a gradual bilateral reduction of central and color vision, can be accompanied by photophobia and a slight pendulum-like nystagmus.

Symptoms (in order of manifestation)

• In the fovea - unchanged or nonspecific changes in the form of pigment granules.
• Maculopathy of the "bovine eye" type is a classic, but not a permanent symptom.
• Pigmentation in the form of "bony bodies" on the middle periphery, narrowing of arterioles and temporal decoloration of the optic disc can appear.
• Progressive atrophy of RP in the macular area with "geographical" atrophy.
• Electroretinogram. Photopic - subnormal or unregistered, CFR is reduced, the stick response is retained for a long time.
• The electro-oculogram is normal or subnormal.
• Dark adaptation. The cone "knee" was changed, later the changes of the rod "knee" can be added.
• Color vision: gross violation of perception of green and blue colors without correlation with visual acuity.
• The phage under the picture of a "bull's eye" reveals a rounded hypofluorescent "final" defect with a hypofluorescent center.

The forecast depends on the degree of defeat of the rod system: the greater the safety, the more favorable the forecast (at least, the medium-term).

Differential diagnosis of maculopathy by the type of "bovine eye": chloroquine maculopathy, degeneration of Stargardt in advanced stage, fenestrated brilliant dystrophy, benign concentric annular macular degeneration and Batten disease.

Stargardt's Dystrophy

Stargardt's dystrophy (juvenile macular degeneration) and yellow-spotted fundus are considered as clinical variants of one disease, differing in age of onset and prognosis.

Type of inheritance is autosomal recessive, gene ABC4Rna 1p21-22. It appears in 1-2 decades of life by a bilateral gradual decrease in central vision, which may not correspond to changes in the fundus, and the child may be suspected of being simulated.

Symptoms (in order of manifestation)

• In fovea - no change or redistribution of the pigment.
• Oval foci of the "snail trace" type or bronze reflex, which can be surrounded by white-yellow spots.
• "Geographic" atrophy can look like a "bull's eye".
• Electroretinogram. Photopic - normal or subnormal. The scotopic electro-retinogram is normal.
• The electrooculogram is subnormal in the advanced stage.
• Color vision: a violation of the perception of green and blue colors.
• The PHAG often reveals the phenomenon of "dark choroid" as a consequence of lipofuscin deposits in the RP. The absence of normal fluorescence enhances the contours of the retinal vessels. "Geographic" atrophy manifests itself as the "final" defect in the macula.
• The prognosis is unfavorable: after a decrease in visual acuity below 6/12 there is a rapid decrease in visual acuity up to 6/60.

Yellow-spotted fundus

Type of inheritance is autosomal recessive. It appears in adults, in the absence of changes in the macular area can be asymptomatic and be an accidental finding.

Symptoms (in order of manifestation)

• Two-sided white-yellow spots with fuzzy boundaries at the level of the RPE at the back pole and the middle periphery. Spots are rounded, oval, linear, translucent or pisiform (in the form of "fish tail").
• The eye-bottom is bright red in 50% of cases.
• There are new spots, and the old ones get more blurred boundaries and become softer.
• In some cases, "geographical" atrophy develops.
• Electroretinogram. Photopic - normal or subnormal, scotopic - normal.
• The electro-oculogram is subnormal.
• Color vision does not suffer.
• The PHAG reveals a picture of the "silent" choroid. Fresh spots are manifested by the early block and late fluorescence, the old ones - by the "final" defects of the RP.
• The forecast is relatively good. Symptoms may not appear for many years if the spot does not appear in the foveola or the "geographical" atrophy develops.
• Differential diagnosis: dominant druses, "white-spot" fundus, early dystrophy of North Carolina and benign "spotted" retina syndrome.

Juvenile disease Best

Juvenile disease Best (vitelliform dystrophy) is a rare condition that takes place in its development in succession 5 stages. Type of inheritance is autosomal dominant.

• Stage 0 (previtilliform) is characterized by a subnormal electrooculogram in the absence of complaints and a normal eye day.
• Stage 1 is characterized by a redistribution of the pigment in the macular area.
• Stage 2 (vitelliform) develops in 1-2 decades of life and is characterized by changes in the macular area, which resemble a cyst in the form of an egg yolk: the subretinal deposit of lipofuscin. Visual acuity is normal or somewhat reduced.
• Stage 3 (pseudohypopion) occurs with partial absorption of lipofuscin. Over time, the entire contents of the cyst are absorbed without affecting visual acuity.
• Stage 4 (ruptured cysts). When the cyst ruptures, the appearance of "scrambled eggs" appears and the visual acuity decreases.

Electroretinogram is normal. The electrooculogram is sharply reduced at all stages and in carriers with a normal fundus. Color vision is impaired in accordance with reduced visual acuity. The PHAG reveals a block of choroidal fluorescence in the vitelliform stage.

The prognosis is relatively favorable until the 5th decade of life, when visual acuity decreases. Legal blindness in some patients is caused by scarring of the macular area, SNM, "geographical" atrophy, the formation of central ruptures, which can be the cause of detachment.

Vitelliform fowamacular dystrophy of adults

The disease is referred to as "pattern-dystrophy." But compared with changes in the Best disease, foveal foci are smaller, appear later and do not evolve.

Type of inheritance, possibly autosomal dominant, gene in locus 6p21 -22.

It manifests itself in 4-6 decades of life in the form of a small metamorphosis, often discovered by chance.

Symptoms: bilateral, symmetrical, rounded, slightly suggestive yellow subretinal foci about 1/3 of the diameter of the disc.

• Electroretinogram is normal.
• The electro-oculogram is normal or slightly subnormal.
• Color vision: unintentional violations on the tritane axis.
• The PHAG reveals hypofluorescence in the center, surrounded by a ring of hyperfluorescence.

The forecast is favorable in most cases.

Multifocal disease Best

The multifocal disease Best is extremely unusual and can occur with unhealed heredity. In adulthood, it can be acute and difficult to diagnose.

Family Druses

Family druses (honeycomb choroid Doyne, malattla levantinese) are considered an early manifestation of age-related macular degeneration.

Type of inheritance is autosomal dominant with full penetrance and variable expressiveness. Gene EFEMP1 at 2p16.

Symptoms

• an easy degree is characterized by a few small hard druses, limited to the macular zone. Changes are usually manifested in the 3rd decade of life, the course is favorable;
• the middle degree is characterized by large soft druses at the posterior pole and in the parapapillary zone. Changes occur in the
  third decade of life and sometimes may be accompanied by a slight decrease in visual acuity;
• the advanced stage is rare and occurs after the 5th decade of life, it is complicated by SIM or "geographical" atrophy;
• malattia levantinese resembles family drusen: small, numerous, basal laminar druses spinoccurrant or radially oriented with center in the fovea and parapapillary zone. Most patients do not complain until 4-5 decades of life, when there is a SIM or "geographical" atrophy.

Electroretinogram is normal. The electrooculogram is subnormal in the advanced stage. The PHAG reveals hyperfluorescent spots with clear boundaries, similar to the "final" defects. They are more pronounced than in a clinical examination.

[1], [2], [3], [4]

Pseudoinflammatory macular degeneration Sorsby

Pseudo-inflammatory macular degeneration Sorsby (hereditary hemorrhagic dystrophy) is a rare and serious disease. Type of inheritance is autosomal dominant, with full penetrance, TIMP3 gene at 22ql2.1-1.3.2. It appears in the 5th decade of life in the form of bilateral exudative maculopathy.

Symptoms (in order of manifestation)

• white-yellow "drainage, drusopodobnye deposits along the vascular arcades, nasal from the disk on the middle periphery.
• SIM and exudative maculopathy.
• Subretinal scar.

The electroretinogram is normal at first, but it can decrease with the progression of the disease. The electro-oculogram is normal.

Prognosis unfavorable due to maculopathy. In some patients progressing to peripheral chorioretinal atrophy leads to impaired vision in the 7th decade of life.

Macular Dystrophy of North Carolina

Macular degeneration of North Carolina is a rare, severe disease. The type of inheritance is autosomal dominant with full penetrance and significantly variable expressiveness, the MCDRI gene at 6q.

Symptoms and prognosis

• Stage I: white-yellow, drusopodobnye inclusions in the periphery and in the macular area develop in the first decade of life and can be asymptomatic throughout life;
• Stage 2: deep, draining inclusions in the macular area. The long-term prognosis is less favorable, as exudative maculopathy can develop;
• Stage 3: bilateral colobomous atrophic changes in the macular area with varying degrees of visual acuity reduction.

Electroretinogram is normal. The electro-oculogram is normal. PHAG in 1 and 2 stages reveals transmission defects and later staining.

Butterfly macular degeneration

Butterfly macular degeneration is a rare disease with a relatively favorable course. The type of inheritance is presumably autosomal dominant. It appears in 2-5 decades of life, it is usually discovered by chance. A slight decrease in central vision is possible.

Symptoms

The yellow pigment in the fovea is located triradiate. Small dispersed dispersigmentation at the periphery can be detected.

Electroretinogram is normal. The electro-oculogram is pathological. The PHAG reveals the corresponding zones of hypofluorescence.

The forecast is favorable.

[5], [6], [7], [8], [9], [10], [11], [12]

Dominant cystic macular edema

Dominant cystic macular edema is a rare and severe disease. The type of inheritance is autosomal dominant, the gene is localized to 7q. Is manifested in 1-2 decades of life by a gradual decrease in central vision.

Symptoms.

Two-way CMO is not stopped by the systemic administration of acetazolamide. Electroretinogram is normal. The electro-oculogram is normal or subnormal. The phage reveals the pattern of sweating in the fovea in the form of a "flower petal."

The prognosis is unfavorable because of the subsequent development of "geographical" atrophy.

[13], [14], [15], [16], [17], [18]

Crystalline dystrophy

This disease is characterized by the deposition of crystals in the retina and on the periphery of the cornea. Type of inheritance linked to the X-chromosome or autosomal recessive. It manifests itself in the third decade of life with a progressive decrease in vision.

Symptoms (in order of manifestation)

White-yellow crystals are disseminated throughout the eye fundus. Local atrophy of RP and chorio capillaries in the macula. Diffuse atrophy of chorio capillaries. Gradual fusion and expansion of atrophic zones on the periphery of the retina.

Electroretinogram subnormal. The electro-oculogram is subnormal.

The prognosis is uncertain, the rate of progression is individual.

[19], [20], [21], [22], [23]

Alport Syndrome

Alporl syndrome is a rare anomaly of the glomerular basal membrane caused by mutations in several different genes, each of which codes for the synthesis of different forms of type IV collagen, the main component of the basal membrane. It is characterized by chronic renal failure, often combined with neurosensory hearing loss.

Type of inheritance is dominant, linked to the X-chromosome.

Symptoms

Disseminated, pale, yellow dots in the perimacular area with intact fovea and normal visual acuity. Larger spots on the periphery, some merge with each other.

• Electroretinogram is normal.
• Other ophthalmic manifestations: anterior lenticone, sometimes posterior polymorphous degeneration of the cornea.

The forecast is favorable.

[24], [25], [26], [27], [28], [29], [30], [31]

Benign family "spotted" retina

A benign family "spotted" retina is a very rare disease, asymptomatic, is discovered by chance. Type of inheritance is autosomal recessive.

Symptoms

• Common white-yellow spots at the level of RP with an intact macula. Foci of various forms extend to the far periphery.
• Electroretinogram is normal.

The forecast is favorable.

[32], [33],

Congenital rod monochromasia

Type of inheritance is autosomal recessive.

Symptoms

• Visual acuity 6/60.
• The macula looks normal, hypoplasia is possible.
• Congenital nystagmus and photophobia.

Electroretinogram. Photopic - pathological, scotopic can be subnormal, CCHM <30 Hz. Color vision is absolutely absent; all colors look like shades of gray.

Incomplete rod chopped monochromasia

Type of inheritance is autosomal recessive or linked to the X chromosome

Symptoms

• Visual acuity 6 / 12-6 / 24.
• The macula looks normal.
• There may be nystagmus and photophobia.

Electroretinogram photopic - pathological, scotopic - normal. Color vision is residual.

[34], [35], [36], [37], [38]

The cone monochromasia

Inheritance type is unknown.

Symptoms

• Visual acuity 6 / 6-6 / 9.
• Normal macula.
• Nystagmus and photophobia are absent.

Electroretinogram is normal. Color vision is completely absent.