Ординатура / Офтальмология / Английские материалы / Electrophysiology of Vision_Lam_2005

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Rod monochromatism (autosomal recessive achromatopsia)

Blue cone monochromatism (x-linked incomplete achromatopsia)

STATIONARY NIGHT BLINDNESS DISORDERS

Congenital Stationary Night Blindness

Congenital stationary night blindness (CSNB) refers to a group of genotypically diverse and phenotypically diverse disorders characterized by non-progressive dysfunction of the rod system. The prevalence of CSNB is approximately 1 in 10,000 (1). Night vision impairment is the predominant symptom of CSNB but because this is congenital rather than acquired, some affected persons may not recognize the significance of the symptom and may not complain of impaired night vision if the disease is mild and visual acuity is preserved.

The subtyping of CSNB is complex and is summarized in Fig. 9.1. Autosomal recessive, X-linked recessive, and autosomal dominant forms of CSNB are all found. CSNB subtyping is based on ERG findings and hereditary pattern. Full-field ERG is the key diagnostic test in CSNB because the ERG has distinct findings and retinal appearance is normal except for non-specific myopic changes if present.

Aside from impaired night vision, other clinical findings of CSNB such as reduced visual acuity, myopia, strabismus, and congenital nystagmus may occur and are most consistently found in the X-linked Schubert–Bornschein type. Visual fields in CSNB are normal, and the retinal appearance is unremarkable except for accompanying myopic changes. Tilted, misshapen, or pale optic nerve heads in CSNB have been described (2). However, clinical findings in CSNB are variable even within the same family, and some patients may have normal examination with 20=20 vision so that the diagnosis is not evident unless a full-field ERG is performed. On the other end of spectrum, some autosomal recessive CSNB patients with notable visual impairment in infancy

Figure 9.1 Types of congenital stationary night blindness (CSNB). The classification of CSNB is complex and evolving. The diagram presents subtypes of CSNB based on historical subtyping, hereditary pattern, ERG characteristics, and genetic findings.

with decreased vision and nystagmus may be misdiagnosed as having Leber congenital amaurosis (3).

Schubert–Bornschein Type

Described in 1952, Schubert–Bornschein type (4) is the most common type of CSNB and is characterized by a negative full-field ERG. This means that an impairment of the b-wave occurs such that the b-wave to a-wave amplitude ratio is less than 1 so that the peak of the b-wave does not rise above baseline. This distinct pattern is most apparent on the scotopic bright-flash combined rod–cone response although it may also be noted on the photopic cone flash response.

The Schubert–Bornschein type occurs most commonly in X- linked recessive or autosomal recessive pedigrees. However, rare autosomal dominant CSNB pedigrees with negative ERG pattern have also been reported (5,6).

In 1986, Miyake et al. (7) studied mostly X-linked recessive Schubert–Bornschein CSNB patients and proposed a new classification of complete and incomplete types based on ERG responses. The complete type, designated as CSNB1, was later discovered to be due to mutations of the NYX gene located in the p11.4 region of the X-chromosome (8,9). The NYX gene encodes nyctalopin, a glycosylphosphatidyl (GPI) -anchored extracellular protein which is expressed in tissues including retina, brain, testis, and muscles. Nyctalopin regulates cell growth, adhesion, and migration, and mutant nyctalopin disrupts synapse between neurons and circuitry of the retina. ERG responses of CSNB1 patients are similar to those of monkeys after intravitreal injection of 2-amino-4- phosphonobutyric acid, a glutamate analog, which selectively blocks signal transmission from photoreceptors to ON-bipolar cells (10). Other ERG studies have also supported that CSNB1 is due to abnormality of the ON-depolarizing bipolar cell pathway (11–13). The incomplete type, designated as CSNB2, was later found to be due to mutations of a retinal specific calciumchannel a1F-subunit gene, CACNA1F, located in the p11.23 region of the X chromosome (14–16). Mutations of CACNA1F impairs the influx of Ca2þ required for neurotransmitter release from photoreceptors and limits the activity of the bipolar cells. Impairment of OFF-bipolar cell activities in CSNB2 has been proposed (10).

Reduced visual acuity, myopia, strabismus, and congenital nystagmus are common features of X-linked Schubert– Bornschein CSNB. Ruether et al. (17) compared clinical features between 13 CSNB1 patients and 10 CSNB2 patients and found no significant differences between the two subgroups. Nearly all patients were myopic with a mean refractive error of about 6.00 diopters, mean visual acuity was close to 20=60, 57% had nystagmus, and 53% had strabismus. However, clinical findings in X-linked Schubert–Bornschein CSNB are highly variable (18,19). Pearce et al. (19) in a study