Living with Lowe Syndrome

Table of Contents

A. Historical Review

B. Incidence and Prevalence

A. Diagnosis
B. Eyes

1. Cataracts

2. Glaucoma

3. Corneal degeneration

4. Strabismus

5. Nystagmus

6. Enucleation

C. Brain and central nervous system

1. Intellectual impairment

2. Seizure disorders

3. Behavior problems

4. Physical changes in the brain

5. Hypotonia

D. Kidneys

1. Kidney "wasting" and replacement therapy

2. Other abnormal lab findings

3. Nephrocalcinosis

4. Kidney failure

E. Bones and joints

1. Rickets and soft bones

2. Fractures

3. Scoliosis

4. Short stature

5. Joint swelling and arthritis

6. Teeth

F. Special Health Concerns

1. Conditions causing metabolic imbalance

2. Respiratory illness

3. Eating difficulties

4. Constipation

5. Cysts

6. Undescended testes

G. Prognosis

IV. Genetics

A. Understanding how Lowe syndrome is inherited

1. Genes

2. Chromosomes

3. X-Linked inheritance

4. Carriers

5. New mutations

6. Mosaicism

B. Genetic Counseling

1. Carrier detection

2. Non-carriers

3. Family planning options

V. Research

A. Early research history

B. Discovery of the LS gene and enzyme

C. Current biomolecular research

D. Diagnostic and carrier tests

E. Clinical research

F. The LSA and research

VI. Development and Education

A. Infancy and the early years

1. Early intervention

2. Physical development

3. Speech development

4. Eating problems

B. Middle childhood and adolescence

1. Walking

2. Toileting and self-help skills

3. Puberty

4. Behavior

C. Adulthood

VII. Parents and Families: Living with LS

VIII. The Lowe Syndrome Association

IX. Glossary of Common Medical Terms in Lowe Syndrome

X. Medical and Scientific References

This publication was made possible by gifts from members of the Lowe Syndrome Association.

Special appreciation is extended to members of the LSA Medical and Scientific Advisory Board and other professionals who assisted in writing, editing, and verifying the accuracy of the information provided in this booklet.