Diagnosis of Achromatopsia

Diagnosis of Achromatopsia:

Clinical Opthalmological examination will be done for diagnosing Achromatopsia.

Psychological examination (i.e. color vision), electrophysiological testing (i.e. electroretinography ERG) will be done.

Optical coherence tomography will show progressive disruption, in few cases, along with loss of outer or inner segment junction of photoreceptors & attenuation of retinal pigment epithelium (RPE) within macular area.

Verification of the diagnosis of Achromatopsia will be done through molecular genetic analysis of responsible genes.

Blue cone monochromatism or BCM, etc cone dystrophies along with cerebral achromatopisa will be done as a part of differential diagnosis.

At-risk couples can go for prenatal diagnosis at specialized labs so as to know if their child will have chances to get this Achromatopsia disorder. 

What is Achromatopsia?

What is Achromatopsia?

Achromatopsia or ACHM is a medical condition which shows symptoms related to a minimum of 5 separate individual medical disorders. 

This term, in some cases, refers to Cerebral Achromatopisa and is commonly known as Color agnosia. 

It is a autosomal recessive congenital color vision defect where the patients will be unable to perceive color and will be able to have satisfactory visual activity only when the high levels of light. 

Incomplete form of Achromatoposia is termed as dyschromatopsia. Estimation of occurrence of this disorder is 1:33,000. 

According to the researchers, patients suffering from this disorder will not be able to see colored ones, but will see them only in white, black and shades of grey. 

Diagnosing the typical achromatic conditions is difficult because of low response rates, small sample sizes, etc. 

Achondroplasia Symptoms

Achondroplasia Symptoms 

• ·         Achondroplasia can be identified right at birth time also.
• 
  
• ·         Baby will have appropriate size trunk but will have inappropriate i.e. shorter arms and legs. Head will be large but toes and fingers will be stubby.
• 
  
• ·         Such babies will be slow to sit or walk alone or to stand.
• 
  
• ·         But such babies are not mentally retarded ones.
• 
  
• ·         In some cases, babies become bow legged after starting to walk.
• 
  
• ·         Frequent ear infections have been reported in the children and might develop in sway back.
• 
  
• ·         Adults may suffer from leg pains. Paralysis, which prevent walking, is also not uncommon in adults.
• 
  
• ·         For coping up with these symptoms, surgery is present and this surgery will relieve the pressure in the stenosis part of the spine. 
• 
  

What is Achondroplasia

What is Achondroplasia

·         Achondroplasia refers to a growth defect disorder which results in short stature, otherwise known as dwarfism.

·         Genetic disorder is sought to be the major reason behind this condition. Genes that are concerned with bone growth in upper arm and upper leg are found to be defective in such people.

·         This condition is seen in one among 20,000 births or less, in both girls and boys, and is seen in all ethnics across the world.

·         Even though there is no history of Achondroplasia in the family, this condition may be seen in the offspring (nearly 80 percent of the cases)

·         Those who are suffering from this disorder will not be able to grow more than 4 feet tall even as adults.

·         Severe form of Achondroplasia may also cause neonatal to die immediately after the birth or might result in stillborn condition.

·         Few children suffering from this disorder might die suddenly because of neurological problems. 

Researches on abetalipoproteinemia & its future

Researches on abetalipoproteinemia & its future

·         Abetalipoproteinemia enabled the scientists and researchers to know more about the working of fats and lipoproteins in the body.

·         Earlier, people didn’t know why this disease occurred. Latest researches revealed that this disorder is caused by genetic disorder.

·         Hence, researchers and scientists are involved in the identification of that particular gene.

·         In future, it is expected that scientists will be able to identify the abnormal gene and will be able to treat it. 

      Advanced technology and science is promising that someday, man will be able to identify the gene involved in abetalipoproteinemia and correct its defect to treat the disorder. 

Treatment of Abetalipoproteinemia

Treatment of Abetalipoproteinemia

Treatment for genetic disorders like abetalipoproteinemia will be difficult as the problem will be inborn and will be inside their genes. But some methods have been developed to cope up with the disorder.

·         Specific diet has been developed for abetalipoproteinemia patients.

·         According to this diet, certain types of fats are to be avoided.

·         Vitamin supplements having K, E and A are to be added to the diet.

·         Also, suitable quantities of iron supplements are to be taken in the food.

·         Nutritionists will generally work with the family of the abetalipoproteinemia patient and will design meal plans suitable to their requirements. 

How Abetalipoproteinemia is Diagnosed?

How Abetalipoproteinemia is Diagnosed?

·         Stomach problems of the infant can serve as early clues for diagnosing Abetalipoproteinemia.

·         Stools of the infact are to be tested to check if there is high level of fat (since the fat will be excreted by the body rather than using )

·         Diagnosis will be done through blood tests

·         Under a microscope, abetalipoproteinemia patient’s sample will show abnormal red blood cells.

·         In the blood, there will be low levels of fat like triglycerides, cholesterol, etc.

·         Clotting time tests and iron level tests will also be abnormal

·         Inflammation of the eye i.e. retinitis will be noticeable in case of eye examination

·         Abnormal results will be seen in muscle strength & contraction tests. 

What are the Symptoms of Abetalipoproteinemia?

What are the Symptoms of Abetalipoproteinemia?

·         Those who are born with Abetalipoproteinemia will have stomach problems because if inability to digest fats in a proper way.

·         Stools of these patients will be in pale color and will have foul smell.

·         Bloated bellies, diarrhea, vomiting, inability to gain weight or to grow in normal way.

Since the patient will not be in a position to acquire and use fats in proper way, he or she will also have problems with vitamins that are associated with fats i.e. Vitamin K, E and A.

In the first ten years of the life itself, patient’s body will show symptoms that are related to the deficiency of fats and fat soluble vitamins. Few of such symptoms are:

·         Eye problems

·         Blood Problems

·         Muscle Problems

·         Movement disorders

·         Trouble walking or ataxia

·         Sensory disturbances 

What is Abetalipoproteinemia?

What is Abetalipoproteinemia?

·         Abetalipoproteinemia is a kind of inherited disease which disturbs the process of assimilation and usage of fats in the body.

·         This disease is also known by other name Bassen Kornzweig Syndrome.

·         Fats are required by our body for healthy muscles, nerves and for digestions.

·         Since fats don’t mix with other things, they can’t travel around the body as like water and oils.

·         Lipoproteins get attached to fats for travelling to different places of the body.

·         Those who are having disorder Abetalipoproteinemia, will not be able to produce this protein which will affect the transport of fats across the body.

·         Because of this reason, fats will not be sent to the place where it is needed. Ultimatley, it will lead to many serious health problems.

Hi All

Hello Everyone,

this blog has been created by me, for posting different kinds of medical and health related pictures collected from different sources on the internet. I just want to share all these pictures with everyone through this one, so as to help them in knowing the medical conditions in a better way.

Hope to get support of everyone, if anyone is having complaint/suggestions/copyright problems or any other issues, please mail me at netophilic@gmail.com