Ординатура / Офтальмология / Английские материалы / Ocular Pathology_6th edition_Yanoff, Sassani_2009

z

z

z

z

C D

E

3.It is inherited as an autosomal-recessive trait.

4.Histologically,a filamentary degeneration of zonular

fibers produces a thick PAS-positive layer overlying the ciliary epithelium.

The picture may be almost identical to that seen in homocystinuria.

II.Congenital ectopia of the lens without associated systemic problems

A. Simple ectopia lentis

z

z

Fig. 10.30 Marfan’s syndrome. A, The lens has dislocated into the anterior chamber (although in Marfan’s syndrome the lens usually subluxates superotemporally in the posterior chamber). Anterior dislocation is more common in homocystinuria. B, A histologic section from an infant shows a relatively normal anterior segment. C, Electron microscopic examination of a normal lens shows the zonular fibers spread out over the anterior lens capsule. Note the fanning out and the tapering of the fibers (z, zonular fibers fan out and taper). D, The zonular fibers intruding into the anterior capsule of a patient with Marfan’s syndrome show a flattening and rapid attenuation of the fibers, along with a lack of wide separation, probably representing a weakened attachment site (z, flattened zonular fibers). E, Electron micrograph shows normal arrangement of myriad filaments, highly aligned, that make up fragment of zonular fiber. (A, Courtesy of Dr. AC Wulc; B, reticulum stain; C and D, scanning electron micrographs; D and E, from Ramsey MS et al.: Am J Ophthalmol 76:102. Copyright Elsevier 1972.)

1.Simple ectopia lentis is usually bilateral and symmetric, with the lenses subluxated upward and laterally.

2.Iridodonesis is often present.

3.It has an autosomal inheritance pattern, occasionally with decreased penetrance.

4.Associated ocular problems include dislocation of the lens into the anterior chamber, secondary glaucoma, and neural retinal detachment.

B.Ectopia lentis et pupillae is quite similar to simple ectopia lentis, but with the additional feature of ectopia of the pupil.

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NORMAL ANATOMY

I.The neural retina (Figs 11.1 through 11.3) is a highly specialized nervous tissue, in reality a part of the brain that has become exteriorized.

Although the terms neural retina and sensory retina are proper, in this chapter, because of “customary” usage, the terms retina, neural retina, and sensory retina are often used interchangeably. The terms refer to all the “layers” of the retina exclusive of its retinal pigment epithelium (RPE), which is discussed separately (see p. 684 in Chapter 17). The term neurosensory retina is redundant.

A.Traditionally the retina, from the RPE externally to the internal limiting membrane internally, is divided into 10 layers (see Fig. 11.2B).

B.The neural retina has the equivalent of both white matter (plexiform and nerve fiber layers) and gray matter (nuclear and ganglion cell layers).

C.The glial cells are represented mostly by large, all-per- vasive, specialized Müller cells and, less noticeably, by small astrocytes (and possible oligodendrocytes) of the inner neural retinal layers.

D.As in the brain, a vasculature is present in which the

endothelial cells possess tight junctions, producing a blood–retinal barrier.

II.Foveomacular region of the neural retina

A.Clinicians often confuse the proper use of the terms fovea, macula, and posterior pole (see Fig. 11.3).

1.For convenience and practicality, the three clinical terms correspond best to the three anatomic terms

foveola, fovea (centralis), and area centralis (often called histologic macula). The clinical fovea, there-

fore,equals the anatomic foveola; the clinical macula equals the anatomic fovea; and the clinical posterior pole equals the anatomic area centralis (“histologic macula”).

2.The anatomic fovea or fovea centralis (which corresponds to the clinical macula) is a depression or pit in the neural retina that is approximately the same size, especially in horizontal measure, as the corresponding optic disc (i.e., 1.5 mm).

3.The anatomic foveola (which corresponds to the clinical fovea) is a small ( 350 μm diameter)

reddish disc, the floor of the fovea; it is a major portion of the foveal avascular zone (l500 to 600 μm diameter).

4.The anatomic macula (which corresponds to the clinical posterior pole) comprises an area larger than the anatomic fovea.

a.The term macula is derived from the term macula lutea.

b.It is equated with the histologic appearance of more than a single layer of ganglion cells (i.e., area centralis).

The ganglion cell layer is a continuous, single-cell layer everywhere in the neural retina except in the macular region, where it thickens to form a multilayer.

c.The anatomic macula actually encompasses an area contained just within the optic nerve and the superior and inferior retinal temporal arcades,

and extends temporally approximately two disc diameters beyond the central fovea.

The darkness of the central area of the anatomic macula as seen in fluorescein angiograms is caused by four factors: (1) the yellow pigment (xanthochrome) present mainly in the middle layers of the central macular retina; (2) the central avascular zone; (3) the taller, narrower RPE cells, which contain more melanin granules per unit than elsewhere; and (4) the increased concentration in the central macular RPE of lipofuscin, which acts as an orange filter in filtering out the fluorescence.

III.The retina is susceptible to many diseases of the central nervous system, as well as to diseases a ecting tissues in general. In addition, the highly specialized photoreceptor cells are subject to their own particular disorders.

CONGENITAL ANOMALIES

Albinism (Fig. 11.4)

I.Oculocutaneous albinism (OCA)

A.Three subtypes of tyrosinase-negative (complete universal albinism) OCA: tyrosinase-negative albinism, platinum albinism, and yellow mutant-type albinism

1.Tyrosinase-negative OCA

a.Autosomal-recessive inheritance

b.The condition is characterized by fine white or straw-colored hair; pale, silky skin; pink irides; red pupillary glow; total iris transillumination; poor vision; nystagmus; strabismus; photophobia; hypopigmentation of the uvea; and hypoplasia of the fovea.

1). Optic misrouting, consisting of fewer than normal fibers crossing in the optic chiasm and disorganization of the dorsal lateral geniculate nuclei and their projections to the

visual cortex, has been described.

2). A variant, called minimal-pigment OCA, di ers in that minimal amounts of iris pigment and little hair or skin pigment develop in the first decade of life.

c.Histologically, the foveal pit is absent (foveal aplasia, i.e., no foveal di erentiation), ocular structures contain no melanin pigment at all, the

photoreceptor terminals show an abnormal synaptic apparatus, retinal pigment epithelial cells have a sparseness of rough endoplasmic reticulum, and the iris and retinal pigment epithelial cells may contain a few nonmembrane-bound, electron-dense lipofuscin granules.

B.At least seven subtypes of tyrosinase-positive (incomplete universal albinism) OCA: tyrosinase-positive albinism, brown albinism, minimal-pigment albinism,

Hermansky–Pudlak syndrome (hemorrhagic diathesis), Chédiak–Higashi syndrome, rufous albinism, and auto- somal-dominant albinism.

Area centralis

Fovea centralis

Fig. 11.3 Normal retina. Schematic drawing superimposing anatomic terminology on fundus topography. The central capillary ring is also called the perifoveal capillary ring. ILM, internal limiting membrane; XLM, external limiting membrane. (Modified with permission from Fine BS, Yanoff M: Ocular Histology: A Text and Atlas, 2nd edn. Hagerstown, MD, Harper & Row, 1979:113. © Elsevier 1979.)

In addition, Cross syndrome (hypopigmentation, microphthalmos, oligophrenia) and OCA with black lock and congenital sensorineural deafness may be subtypes of tyrosinase-positive (incomplete universal albinism) OCA.

1.Tyrosinase-positive albinism

a.It is an autosomal-recessive inheritance disorder that has been mapped to chromosome segment

15q11–q13.

b.The condition is more common in blacks than in whites and is characterized by ocular findings similar to those in tyrosinase-negative patients

(cutaneous findings, however, are more variable).

c.Histologically, the foveal pit is absent (foveal aplasia).

d.A normal number of pigment granules is found, but a deficiency of melanin is present.

2.Chédiak–Higashi syndrome

a.Inheritance is autosomal recessive.

b.The condition is one of the immunodeficiency diseases (see p. 21 in Chapter 1) and is associated with a lack of resistance to infection and generalized lymphadenopathy. The condition is fatal from generalized infection, usually during the second decade of life.

c.Histologically,macromelanosomes may be found in the generally depigmented RPE. The uvea shows decreased pigmentation.

Albinoidism is outlined in Table 11.1.

II.Ocular albinism

A.Nettleship–Falls

1.Classic ocular albinism is inherited as an X-linked recessive trait.

2.In male patients, the condition is characterized by poor visual acuity, nystagmus, photophobia, cartwheel transillumination of the iris, and nonpigmented fundus.

The skin appears normal clinically, but abnormalities can be seen histologically (see later).

In female carriers, cartwheel transillumination of the iris and pigmentary changes in the fundus may be seen.

3.Histologically, macromelanosomes are present in the pigment epithelium of the retina, ciliary body, and iris.

a.Fontana-positive and dopa oxidase-positive macromelanosomes are noted in the epidermis and dermis.

b.The foveal pit is absent (foveal aplasia).

Macromelanosomes may also be found in Chédiak– Higashi syndrome, neurofibromatosis, xeroderma pigmentosum, hypertrophy of the RPE, and grouped pigmentation. Pink or red eyes and translucent irides result from the decreased amount of melanin in the stromal and pigment epithelial cells of the iris. Poor vision is caused by hypoplasia of the foveomacular area of the neural retina. Near vision is often better than distant. Nystagmus and photophobia commonly accompany the defective vision.

B.Forsius–Erikson syndrome (Åland Island eye disease)

This is probably the same entity as X-linked incomplete congenital stationary blindness.

1.Forsius–Erikson syndrome is a form of congenital night blindness.

2.X-linked inheritance pattern is similar to the Net- tleship–Falls type with the addition of a protanomalous color blindness; deletion of part of band 21 of the short arm of the X chromosome (Xp21) is found.

3.Macromelanosomes are not found.

C.Bergsma–Kaiser–Kupfer syndrome (autosomal dominant) is characterized by a di use, fine, punctate depigmentation of iris and RPE but without congenital nystagmus and foveal hypoplasia.

D.Autosomal-recessive type is quite similar to the Nettle- ship–Falls type, except that it is inherited as an autoso- mal-recessive trait.

Grouped Pigmentation (Bear Tracks)

I.Grouped pigmentation (see Fig. 17.20) is seen as multiple, discrete, well-circumscribed, flat, uniformly pigmented areas resembling a bear’s footprints.

TABLE 11.1 Albinoidism

Oculocutaneous or ocular hypopigmentation without nystagmus and photophobia

A. HAIR-BULB TYROSINASE TEST POSITIVE

1.Autosomal-dominant albinoidism

2.Punctate oculocutaneous albinoidism

3.Autosomal-dominant albinoidism and deafness

4.Ocular depigmentation and Apert’s syndrome

5.Waardenburg-like syndrome

6.Hypopigmentation–immunodeficiency disease

B. HAIR-BULB TEST NEGATIVE

1.Menke’s syndrome

2.Prader–Willi syndrome

(Modified from Kinnear PE et al.: Surv Ophthalmol 30:75, 1985.)

II. The condition is unilateral in approximately 85% of cases and is nonprogressive.

III. It a ects a single sector-shaped retinal area whose apex points to the optic disc in approximately 60% of cases. It a ects several separate sectors in approximately 28% of cases, or is distributed over the entire fundus in approximately 12% of cases.

IV. Histologically, hypertrophy of the RPE and large, football-shaped pigment granules (macromelanosomes) are seen.

A.The overlying receptors may show degeneration.

B.The histologic appearance of grouped pigmentation is almost identical to that of congenital hypertrophy of the RPE and probably represents a clinical variant (see p. 689 in Chapter 17).

Coloboma

I.The typical coloboma “of the choroid”(see Fig. 9.8) involves the region of the embryonic cleft (fetal fissure; i.e., inferonasally), and is bilateral in 60% of patients. The coloboma may involve the total region, a large part of it, or one or more small isolated parts.

II.Histologically, the RPE seems to be primarily involved and is absent in the area of the coloboma.

A.The neural retina is atrophic and gliotic and may contain rosettes.

B.The choroid is partially or completely absent.

C.The RPE is usually hyperplastic at the edge of the coloboma.

The sclera may be thinned or even absent in the area of the coloboma, and the neural retina may herniate through in the form of a cyst (microphthalmos with cyst), undergo massive glial proliferation (massive gliosis), or both (see p. 531 in Chapter 14).

Retinal Dysplasia

See p. 747 in Chapter 18.

II.The condition is frequently associated with other ocular abnormalities such as microphthalmos, persistent

hyperplastic primary vitreous, and colobomas.

III.Histologically, the neural retina and nonpigmented epithelium of the ciliary body are separated from the pigment epithelium of the neural retina and ciliary body.

The neural retina may be normal, completely dysplastic, or anything in between.

The space between the neural retina and the RPE closes progressively during fetal life. If something should happen shortly before birth to reverse this trend and rapidly separate the two layers, a congenital neural retinal detachment, secondary in nature, would result. A retinal dialysis (disinsertion), usually located inferotemporally, may develop in utero and lead to a secondary congenital or developmental neural retinal detachment.

Lange’s Fold

I. Lange’s fold (Fig. 11.5; see also Fig. 10.6) is an inward fold of neural retina at the ora serrata only seen in infants’ and children’s eyes.

II.The fold is an artifact of fixation. It is not present in vivo or in an enucleated, nonfixed eye. However, it is a useful artifact because it helps to identify an eye in tissue section as that of a child.

The consistent axial and forward direction of Lange’s fold may be related to the vitreous base–zonular adhesion to the inner neural retinal surface that, in infants, seems to be stronger than the peripheral neural retina–RPE adhesion.

Congenital Nonattachment of the Retina

I.Nonattachment of the neural retina (see Fig. 18.23) is normal in the embryonic eye; persistence after birth is abnormal.

Neural Retinal Cysts

I.A cyst of the neural retina (see Fig. 11.56) is defined arbitrarily as an intraneural retinal space whose inter- nal–external diameter is greater than the thickness of the surrounding neural retina and of approximately equal dimension in any direction; retinoschisis, on the other hand, is an intraneural retinal space whose inter- nal–external diameter is smaller than the thickness of the surrounding neural retina and much smaller than the width of the space lying parallel to the neural retina.

Cyst is a poor term because a cyst, by definition, is an epithe- lium-lined space. However, the term (e.g., intraretinal, intracorneal, intrascleral) is frequently used to describe an intratissue space not necessarily lined by epithelium.