Lancaster Course in Ophthalmology » Unit 04 Congenital Anomalies and the Phakomatoses

Feb 20 2019 by Lancaster Course in Ophthalmology

Juvenile retinoschisis, a disorder with a sex-linked recessive pattern of inheritance. Clinical picture showing schisis in the inferior retina.

Condition/keywords: inferior retina, juvenile retinoschisis

Feb 20 2019 by Lancaster Course in Ophthalmology

Juvenile retinoschisis. Histologic section showing the level of splitting in juvenile retinoschisis {x40). The split is in the nerve fiber layer. In senile retinoschisis, splitting occurs in the outer plexiform layer. {Scheie Eye Institute, No. 2480.)

Condition/keywords: juvenile retinoschisis

Feb 20 2019 by Lancaster Course in Ophthalmology

Retinitis pigmentosa (primary pigmentary degeneration), an example of a disease with a recessive pattern of inheritance. Pigment clumping in characteristic bone-corpuscle pattern.

Condition/keywords: degeneration, retinitis pigmentosa

Feb 20 2019 by Lancaster Course in Ophthalmology

Optic atrophy. Note the marked narrowing of the retinal arterioles.

Condition/keywords: optic atrophy, retinal arteriole

Feb 20 2019 by Lancaster Course in Ophthalmology

Primary pigmentary degeneration of the retina. Histologic section shows clumps of pigment around the , and atrophy of all retinal layers, including the pigment epithelium ( x40). {Massachusetts Eye and Ear Infirmary, No. E49-274.)

Condition/keywords: atrophy, degeneration, pigment epithelium, retinal capillaritis

Feb 20 2019 by Lancaster Course in Ophthalmology

Trisomy 13-15, or nondysjunction (x16). Note the retinal dysplasia and cartilage within the eye. Numerous other anomalies usually are found in babies with this chromosomal aberration. {Scheie Eye Institute, No. 6328.)

Condition/keywords: chromosomal aberration, dysplasia, nondysjunction, Trisomy 13-15

Feb 20 2019 by Lancaster Course in Ophthalmology

Congenital toxoplasmosis, a congenital defect of environmental origin. The chorioretinal scar is not specific but is identical to that produced by acquired infec­tions.

Condition/keywords: chorioretinal scar, congenital defect, congenital toxoplasmosis

Feb 20 2019 by Lancaster Course in Ophthalmology

Cyclopian eye, a massive defect incompatible with life. Because the two eyes are fused in the midline, this is not a case of true cyclopia, but rather is called synophthalmos. (Courtesy of A. P. Ferry, M.D.)

Condition/keywords: cyclopian eye, synophthalmos

Feb 20 2019 by Lancaster Course in Ophthalmology

Histologic section of fused midline eyes (synophthalmos). Note that sev­eral structures are represented in both halves of the specimen. {Courtesy of A. P. Ferry, M.D.)

Condition/keywords: synophthalmos

Feb 20 2019 by Lancaster Course in Ophthalmology

Anophthalmos. The right eye is not visible, but a very tiny eye can be found deep in the socket. The left eye is small with a coloboma.

Condition/keywords: abscess, coloboma

Feb 20 2019 by Lancaster Course in Ophthalmology

Anophthalmos. Biopsy of the tissues often reveals tissues which can be recognized as ocular in origin but markedly disorganized { x 16). (Scheie Eye Institute, No. 3101.)

Condition/keywords: abscess, biopsy

Feb 20 2019 by Lancaster Course in Ophthalmology

Coloboma of the iris. Clinical picture shows the usual position of colo­boma. (Courtesy of H. G. Scheie, M.D.)

Condition/keywords: coloboma, iris

Feb 20 2019 by Lancaster Course in Ophthalmology

Coloboma of the iris. Histologic section shows a shortened iris leaf without sphincter muscle.

Condition/keywords: coloboma, iris, iris leaf, sphincter

Feb 20 2019 by Lancaster Course in Ophthalmology

Coloboma of the choroid. Clinical picture shows coloboma in the typical position below the disk. (Courtesy of H. G. Scheie, M.D.)

Condition/keywords: choroid, coloboma

Feb 20 2019 by Lancaster Course in Ophthalmology

Coloboma of the choroid. Histologic section shows the abrupt transition between the nasal choroid and the retina (left) and the colobomatous area (right).

Condition/keywords: choroid, coloboma

Feb 20 2019 by Lancaster Course in Ophthalmology

Infantile glaucoma. Normal infant angle { x40). (Scheie Eye Institute, No. 515.)

Condition/keywords: infantile glaucoma

Feb 20 2019 by Lancaster Course in Ophthalmology

Angle in infantile glaucoma showing anterior insertion of the iris, a flattened scleral spur, and insertion of the longitudinal fibers of into the trabecular meshwork ( x40). Both eyes are of approximately the same age. (Scheie Eye Institute, No. 1949.)

Condition/keywords: ciliary, infantile glaucoma, iris, scleral spur

Feb 20 2019 by Lancaster Course in Ophthalmology

Infantile glaucoma showing a rupture in Descemet's membrane with extensive duplication of the glass membrane { x 110). (Scheie Eye Institute, No. 1027.)

Condition/keywords: descemet's membrane, infantile glaucoma, rupture

Feb 20 2019 by Lancaster Course in Ophthalmology

Normal anterior border ring at the apex of the trabecular meshwork (x40). (Wills Eye Hospital, No. 16776.)

Condition/keywords: anterior border ring, trabecular meshwork

Feb 20 2019 by Lancaster Course in Ophthalmology

Anteriorly displaced portion of the anterior border ring. This anomaly is called posterior embryotoxon. Only a segment is seen inferior temporally in this case.

Condition/keywords: anterior border ring, posterior embryotoxon

Feb 20 2019 by Lancaster Course in Ophthalmology

Mesodermal dysgenesis. Anterior displacement of the anterior border ring, incomplete differentiation of the iris stroma, absence of Descemet's membrane, vascularization, and scarring of the corneal stroma ( x40). (Scheie Eye Institute, No. 942.)

Condition/keywords: anterior border ring, anterior dislocation of lens, iris, scar, stroma

Feb 20 2019 by Lancaster Course in Ophthalmology

Posterior keratoconus (Peter's anomaly). Peripheral cornea showing me­sodermal dysgenesis ( x16).

Condition/keywords: cornea, dysgenesis, Keratosis pilaris (KP), Peters anomaly

Feb 20 2019 by Lancaster Course in Ophthalmology

Congenital aniridia. Clinical appearance showing the equator of the lens and some of the zonules.

Condition/keywords: aniridia, lens, zonules

Feb 20 2019 by Lancaster Course in Ophthalmology

Congenital aniridia. Histologic section indicating the presence of small, rudimentary iris tags ( x16). (Scheie Eye Institute, No. 478.)

Condition/keywords: aniridia, iris tags

Feb 20 2019 by Lancaster Course in Ophthalmology

Hypoplasia of the optic nerve ( x40). Note the complete absence of myelin in the nerve itself. (Scheie Eye Institute, No. 2529.)

Condition/keywords: hypoplasia, myelin, optic nerve

Feb 20 2019 by Lancaster Course in Ophthalmology

Persistent hyperplastic primary vitreous. Clinical appearance showing a dense posterior cataract. With the pupil dilated, the ciliary processes extend forward toward the apex of the lens.

Condition/keywords: cataract, ciliary, lens, vitreous

Feb 20 2019 by Lancaster Course in Ophthalmology

Persistent hyperplastic primary vitreous. Histologic section showing fi­brous replacement of the hyaloid system, a retrolental fibrous band, and forward drag­ging of the optic disk. (Courtesy of T. Makley, M.D.)

Condition/keywords: hyaloid system, optic disc, retinopathy of prematurity (ROP), vitreous

Feb 20 2019 by Lancaster Course in Ophthalmology

Persistent hyperplastic primary vitreous showing the area around the posterior capsule of the lens. Note the rupture of the capsule by the contracting fibrous membrane, and the extensive cataract. (Courtesy of T. Makley, M.D.)

Condition/keywords: cataract, lens, vitreous

Feb 20 2019 by Lancaster Course in Ophthalmology

Isolated neurofibroma of the orbit. Clinical picture showing a slight ptosis of the left upper lid. A small nodule was palpable above the tarsus. A small cafe au lait spot was the only other manifestation of the disease.

Condition/keywords: neurofibromatosis, ptosis, tarsus

Feb 20 2019 by Lancaster Course in Ophthalmology

Isolated neurofibroma of the orbit. Gross picture of the tumor after removal.

Condition/keywords: neurofibromatosis, tumor

Feb 20 2019 by Lancaster Course in Ophthalmology

Isolated neurofibroma of the orbit. Histopathology to show myelin sheaths of nerve fibers within the tumor (Kluver-Barerra stain x101). (Scheie Eye Institute, No. 6749.)

Condition/keywords: myelin, neurofibromatosis, tumor

Feb 20 2019 by Lancaster Course in Ophthalmology

Isolated neurofibroma of the orbit. Histopathologic appearance.

Condition/keywords: neurofibromatosis, orbits

Feb 20 2019 by Lancaster Course in Ophthalmology

Plexiform neurofibroma in von Recklinghausen's disease. Typical clini­cal appearance with diffuse neurofibromas in both orbits and under the skin of the face. (Courtesy of H. G. Scheie, M.D.)

Condition/keywords: neurofibromatosis, orbits, von Recklinghausen's disease

Feb 20 2019 by Lancaster Course in Ophthalmology

Histopathologic appearance of plexiform neurofibroma ( x16). (Top: H&E; bottom: trichrome stain.) (Scheie Eye Institute, No. 2365.)

Condition/keywords: neurofibromatosis

Feb 20 2019 by Lancaster Course in Ophthalmology

Other ocular manifestations of von Recklinghausen's disease. Neurofi­bromas in the region of the posterior ciliary nerves ( x40).

Condition/keywords: ciliary, neurofibromatosis, von Recklinghausen's disease

Feb 20 2019 by Lancaster Course in Ophthalmology

Neurofibromatosis of the choroid ( x40). (Scheie Eye Institute, No. 47-3.)

Condition/keywords: choroid, neurofibromatosis

Feb 20 2019 by Lancaster Course in Ophthalmology

Tuberous sclerosis. A later stage of the glial hamartoma. Small granules of calcium have developed as a degenerative change.

Condition/keywords: hamartoma, tuberous sclerosis

Feb 20 2019 by Lancaster Course in Ophthalmology

Clinical appearance of a glial hamartoma in a patient with Bourneville's disease. (Courtesy of H. G. Scheie, M.D.)

Condition/keywords: Bourneville's disease, hamartoma

Feb 20 2019 by Lancaster Course in Ophthalmology

Angiomatosis (von Hippel's disease). A capillary angioma is present in the retina ( x40). It is usually fed by a large set of vessels in the retina. (Courtesy of Don Nicholson, M.D.Wilmer Institute, No. 33611.)

Condition/keywords: angioma, Von Hippel-Lindau

Feb 20 2019 by Lancaster Course in Ophthalmology

High-power view of angioma in Slide 4-44 ( xlOl).

Condition/keywords: angioma