Find information on thousands of medical conditions and prescription drugs.

Cone dystrophy

A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible from both central and color vision. more...

Home
Diseases
A
B
C
Angioedema
C syndrome
Cacophobia
Café au lait spot
Calcinosis cutis
Calculi
Campylobacter
Canavan leukodystrophy
Cancer
Candidiasis
Canga's bead symptom
Canine distemper
Carcinoid syndrome
Carcinoma, squamous cell
Carcinophobia
Cardiac arrest
Cardiofaciocutaneous...
Cardiomyopathy
Cardiophobia
Cardiospasm
Carnitine transporter...
Carnitine-acylcarnitine...
Caroli disease
Carotenemia
Carpal tunnel syndrome
Carpenter syndrome
Cartilage-hair hypoplasia
Castleman's disease
Cat-scratch disease
CATCH 22 syndrome
Causalgia
Cayler syndrome
CCHS
CDG syndrome
CDG syndrome type 1A
Celiac sprue
Cenani Lenz syndactylism
Ceramidase deficiency
Cerebellar ataxia
Cerebellar hypoplasia
Cerebral amyloid angiopathy
Cerebral aneurysm
Cerebral cavernous...
Cerebral gigantism
Cerebral palsy
Cerebral thrombosis
Ceroid lipofuscinois,...
Cervical cancer
Chagas disease
Chalazion
Chancroid
Charcot disease
Charcot-Marie-Tooth disease
CHARGE Association
Chediak-Higashi syndrome
Chemodectoma
Cherubism
Chickenpox
Chikungunya
Childhood disintegrative...
Chionophobia
Chlamydia
Chlamydia trachomatis
Cholangiocarcinoma
Cholecystitis
Cholelithiasis
Cholera
Cholestasis
Cholesterol pneumonia
Chondrocalcinosis
Chondrodystrophy
Chondromalacia
Chondrosarcoma
Chorea (disease)
Chorea acanthocytosis
Choriocarcinoma
Chorioretinitis
Choroid plexus cyst
Christmas disease
Chromhidrosis
Chromophobia
Chromosome 15q, partial...
Chromosome 15q, trisomy
Chromosome 22,...
Chronic fatigue immune...
Chronic fatigue syndrome
Chronic granulomatous...
Chronic lymphocytic leukemia
Chronic myelogenous leukemia
Chronic obstructive...
Chronic renal failure
Churg-Strauss syndrome
Ciguatera fish poisoning
Cinchonism
Citrullinemia
Cleft lip
Cleft palate
Climacophobia
Clinophobia
Cloacal exstrophy
Clubfoot
Cluster headache
Coccidioidomycosis
Cockayne's syndrome
Coffin-Lowry syndrome
Colitis
Color blindness
Colorado tick fever
Combined hyperlipidemia,...
Common cold
Common variable...
Compartment syndrome
Conductive hearing loss
Condyloma
Condyloma acuminatum
Cone dystrophy
Congenital adrenal...
Congenital afibrinogenemia
Congenital diaphragmatic...
Congenital erythropoietic...
Congenital facial diplegia
Congenital hypothyroidism
Congenital ichthyosis
Congenital syphilis
Congenital toxoplasmosis
Congestive heart disease
Conjunctivitis
Conn's syndrome
Constitutional growth delay
Conversion disorder
Coprophobia
Coproporhyria
Cor pulmonale
Cor triatriatum
Cornelia de Lange syndrome
Coronary heart disease
Cortical dysplasia
Corticobasal degeneration
Costello syndrome
Costochondritis
Cowpox
Craniodiaphyseal dysplasia
Craniofacial dysostosis
Craniostenosis
Craniosynostosis
CREST syndrome
Cretinism
Creutzfeldt-Jakob disease
Cri du chat
Cri du chat
Crohn's disease
Croup
Crouzon syndrome
Crouzonodermoskeletal...
Crow-Fukase syndrome
Cryoglobulinemia
Cryophobia
Cryptococcosis
Crystallophobia
Cushing's syndrome
Cutaneous larva migrans
Cutis verticis gyrata
Cyclic neutropenia
Cyclic vomiting syndrome
Cystic fibrosis
Cystinosis
Cystinuria
Cytomegalovirus
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk and have progressive difficulty with daytime vision. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to counting fingers vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates.

The pathogenesis of cone dystrophy has yet to be elucidated. It appears that the dystrophy is primary, since subjective and objective abnormalities of cone function are found before ophthalmoscopic changes can be seen. However, the retinal pigment epithelium (RPE) rapidly becomes involved, leading to a retinal dystrophy primarily involving the macula. The histological examination of the eyes of one such patient showed that the outer nuclear layer of cones and rods had disappeared completely, whereas the RPE showed pronounced pigment changes. There was also atrophy of the temporal disc.

The fundus exam via ophthalmoscope is essentially normal early on in cone dystrophy, and definite macular changes usually occur well after visual loss. Fluorescein angiography (FA) is a useful adjunct in the workup of someone suspected to have cone dystrophy, as it may detect early changes in the retina that are too subtle to be seen by ophthalmoscope. For example, FA may reveal areas of hyperfluorescence, indicating that the RPE has lost some of its integrity, allowing the underlying fluorescence from the choroid to be more visible. These early changes are usually not detected during the ophthalmoscopic exam.

The most common type of macular lesion seen during ophthalmoscopic examination has a bull’s-eye appearance and consists of a doughnut-like zone of atrophic pigment epithelium surrounding a central darker area. In another, less frequent form of cone dystrophy there is rather diffuse atrophy of the posterior pole with spotty pigment clumping in the macular area. Rarely, atrophy of the choriocapillaris and larger choroidal vessels is seen in patients at an early stage. The inclusion of fluorescein angiography in the workup of these patients is important since it can help detect many of these characteristic ophthalmoscopic features. In addition to the retinal findings, temporal pallor of the optic disc is commonly observed.

As expected, visual field testing in cone dystrophy usually reveals a central scotoma. In cases with the typical bull’s-eye appearance, there is often relative central sparing.

Because of the wide spectrum of fundus changes and the difficulty in making the diagnosis in the early stages, electroretinography (ERG) remains the best test for making the diagnosis. Abnormal cone function on the ERG is indicated by a reduced single-flash and flicker response when the test is carried out in a well-lit room (photopic ERG). The relative sparing of rod function in cone dystrophy is evidenced by a normal scotopic ERG, i.e. when the test is carried out in the dark. In more severe or longer standing cases, the dystrophy involves a greater proportion of rods with resultant subnormal scotopic records. Since cone dystrophy is hereditary and can be asymptomatic early on in the disease process, ERG is an invaluable tool in the early diagnosis of patients with positive family histories.

Read more at Wikipedia.org


[List your site here Free!]


Judi Jasek; assisted visually impaired
From Chicago Sun-Times, 8/15/03 by Brenda Warner Rotzoll

Judi Jasek made a difference in thousands of people's lives as she helped them get the training, devices and assistance they needed to cope with blindness or loss of vision.

She coped with her own vision loss so well that many of her clients never knew she had only about 5 percent of her eyesight left, in most light just enough to make out nearby shapes in gray. Nor did strangers who saw her whipping down the ski slopes in Michigan's Upper Peninsula.

Since 1995, she had dashed about the offices of the Catholic Guild for the Blind at 180 N. Michigan with the assurance of a fully sighted person, finding people helpful things such as lighted magnifying glasses, braille-marked kitchen items, talking watches and calculators, software to make computers talk, heavily lined paper for writing notes, or the latest designs in white canes.

Her beloved guide dog Ian accompanied her from her LaGrange house as she walked to the train station, rode to Union Station and walked each day to Michigan Avenue.

Then he spent most of the day curled beneath her desk.

Mrs. Jasek died Tuesday at LaGrange Hospital of complications from a cancerous brain tumor diagnosed July 6. She was 56.

She had just been promoted from manager of the Guild's consumer product center to manager of rehabilitation and had developed a community program for an introductory course for people recently diagnosed with low-vision issues.

"Judy knew that when someone is diagnosed with a visual impairment, they tend to close down. They're not likely to come to even a friendly place like the Guild. She wanted to offer them help in their home community so it would be a familiar place, a place they could get to readily, so they could see they are not alone," said David Tabak, executive director of the Guild. He said the program will be carried out.

Mrs. Jasek was born in Harvey, the oldest of five children of Ancel and Carolyn Dean. She graduated from Thornton Township High School and earned an associate's degree from what now is South Suburban College.

Mrs. Jasek was 26 when cone and rod dystrophy began to attack her eyes. She went from 20-20 vision to legally blind in about 18 months. She went through white cane and mobility training and began working at the Riverdale library as volunteer coordinator, ordering talking books for people with vision loss. She met her husband, teacher and librarian Owen Jasek, when they both worked there. They married in 1994.

In the early 1980s, to increase her mobility, she got her first guide dog. She became a guide dog advocate and until her death served on the board of Guiding Eyes for the Blind in Yorktown Heights, N.Y.

Mrs. Jasek recently earned a master's degree in blindness rehabilitation teaching from Western Michigan University.

She had never tried skiing until she met her husband. "I asked her if she wanted to try, and she said, 'Yeah, I'm willing to try anything.' We hooked up with a ski club. On one of the beginners' trips, they provided her a special instructor for two days at Iron Mountain, Michigan," he said. She became an accomplished downhill skier, with her husband as guide.

From childhood she loved to paint. When her vision failed, she had to give up landscape painting, but using bright light, she managed to see and paint subjects such as a single iris blossom. Her work can be seen on the Guild's Web site at www.guildfortheblind.org. Click on 2003 Art Exhibit.

Survivors in addition to her husband are two daughters, Laura Hutton and Sarah Waymire; her mother; four brothers, James, Charles, John and Robert, and five grandchildren.

Services will be at 10 a.m. today at St. Francis Xavier Church, 124 N. Spring, LaGrange. Burial will be private.

Copyright The Chicago Sun-Times, Inc.
Provided by ProQuest Information and Learning Company. All rights Reserved.

Return to Cone dystrophy
Home Contact Resources Exchange Links ebay