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Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

Animals↗

Uveal coloboma associated with amniotic band syndrome.

A baby girl had constriction bands and digital amputations typical of the amniotic band syndrome, as well as a typical uveal coloboma in a slightly microphthalmic eye. A small, free-floating amniotic band may have lodged in the fetal uveal cleft at 5 to 6 weeks of gestation, preventing closure of the cleft and thus resulting in this first reported instance of an association between amniotic band syndrome and an isolated uveal coloboma.

Amniotic Band Syndrome↗

Biometry and clinical characteristics of congenital cataracts and microphthalmia in the Miniature Schnauzer.

Forty-two Miniature Schnauzer pups and adults with congenital cataracts and microphthalmia were evaluated by serial ophthalmic examinations, slit lamp biomicroscopic photography, and A-scan ultrasonography. The cataracts were evident when the eyelids opened at 2 weeks, affecting predominantly the lens nucleus and posterior cortex. Lenticonus was evident in 19% of the cataractous lenses. Progression of the cataracts was variable and related to involvement of the equatorial and posterior cortices. Lens-induced uveitis developed in some adult dogs with advanced hypermature cataracts. The globe and lens were smaller than normal in the cataractous eyes, as ascertained by A-scan ultrasonography. Age-matched comparisons of clear lens carrier Miniature Schnauzers and normal Beagles with the cataractous Miniature Schnauzers indicated affected globes and cataractous lenses were reduced 10% to 20% in their anteroposterior lengths. The microphthalmia appeared related to the congenital microphakic cataract.

Animals↗

Ultrastructurally abnormal bone and dentin produced by microphthalmic mice.

An ultrastructural study of the jaws of osteopetrotic microphthalmic mice (mi/mi) showed that both bone matrix and dentin were abnormal. In 5 days old mice, the number of osteoblasts was increased: in 15 days old mice, the number of osteocytes was decreased and many of the cells were dead or dying. Mutant osteocytes lacked osmiophilic laminae, calcospherites were irregular in size and density and collagen fibres were scarce and abnormally distributed. In mi/mi mice, the predentin layer of the incisor tooth was abnormally wide, the predentin-dentin junction irregular and patches of hypocalcified or uncalcified dentin were present.

Aging↗

Retinal pigment epithelium: pattern of proliferative activity and its regulation by intraocular pressure in postnatal rats.

The postnatal proliferative activity of retinal pigment epithelium (RPE) cells and its dependence on intraocular pressure were studied using [3H]thymidine and [14C]thymidine autoradiography in normal and experimentally induced microphthalmic pigmented rats. The regulation of RPE growth by intraocular pressure was shown to involve the control of the number of binucleated cells by means of stimulation of cell entry into the S phase of the cell cycle. Binucleated cells in the rat RPE are formed by acytokinetic mitoses between days 2 and 9. The significance of the postnatal proliferation and formation of binucleated cells in the RPE is discussed in terms of the specificity of the G2 phase for melanotropic hormone action on RPE differentiation.

Aging↗

Skeletal abnormalities in domestic chicken.

In 14,891 necropsies performed on domestic poultry during January 1976 to October 1977, two cases of skeletal abnormalities were found. One was a tarsometatarsal spur in an adult female chicken, and the other was a crossed-beak associated with microphthalmia.

Animals↗

Longevity of osteoclasts in radiation chimaeras of beige and osteopetrotic microphthalmic mice.

Beige (bg/bg) mice lethally X-irradiated (900 or 1000 rad) and rescued with spleen cells from osteopetrotic (mi/mi) mice were examined periodically up to 6 months thereafter for signs of osteopetrosis, radiographic and histological. Their metaphyses were also examined electromicrographically for general characteristics of osteoclasts and for giant lysosomal granules. Measurements of lysosomal area indicated no change in the first weeks, then an exponential decline to near base line after 3 months with a half-period of or approximately 10 days. In this combination osteopetrosis was of slower progression than hitherto reported in C57BL mice. We suggest that osteoclasts have no fixed life span and that their longevity is a function of genetic background and perhaps operational needs.

Animals↗

Longevity of osteoclasts in radiation chimaeras of osteopetrotic beige and normal mice.

Beige mice, osteopetrotic from incorporated mi/mi genes, and their skeletally normal siblings were X-irradiated and converted to radiation chimaeras by rescue with normal CBA bone marrow. The procedure produced rapid cure of the osteopetrosis. Electron micrographic measurement of the decline in giant lysosomes of the host mice indicated that the longevity of the host's osteoclasts was up to 30 days in the osteopetrotic and 40 days in the skeletally normal mice. In each case the decline was roughly exponential with half-times of about 6 and 8 days respectively. Monogenetic and perhaps polygenetic and teleological factors are invoked. Absence of a latent period before decline in the score seen in the companion paper is attributed to the presence of partially mature osteoclast precursors in bone marrow, not present in spleen.

Animals↗

Nanophthalmos: a perspective on identification and therapy.

Nanophthalmos is a rare and blinding disease. Diagnostic features include a small eye, small cornea, shallow anterior chamber, narrow angle, high lens/eye volume ratio, and uveal effusion. Intraocular surgery has a high rate of disastrous complications and blindness. The 32 eyes (16 patients) presented are in three categories based on angle closure and intraocular pressure levels. Treatment methods included medication, laser iridotomy and gonioplasty, peripheral iridectomy, filtration surgery, and cataract extraction. Glaucoma medication was effective, although miotics sometimes increased pupillary block. Laser iridotomy was successful in 83% of six eyes; laser gonioplasty in 91.6% of 12 eyes. Peripheral iridectomy succeeded in two of seven eyes, and filtering operations provided tension control in two of five eyes. Thirteen of 15 eyes undergoing filtration surgery suffered severe postoperative visual loss. Cataract extraction improved vision in only three of six eyes. The authors' experience confirms that surgery in nanophthalmic eyes has an extremely high complication rate with disastrous results. Medication and laser therapy are the procedures of choice for angle-closure glaucoma in nanophthalmos.

Adult↗