Abstract
Purpose: To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options. Case reports and discussion: Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed. Conclusions: The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 228-231 |
| Number of pages | 4 |
| Journal | Contact Lens and Anterior Eye |
| Volume | 38 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 1 2015 |
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Keywords
- Corneal epithelial stem cells
- Corneal stromal stem cells
- Ectrodactyly-ectodermal dysplasia-cleft syndrome
- Ocular surface disorders
- P63 mutations
ASJC Scopus subject areas
- Ophthalmology
- Optometry
Cite this
Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome. / Kennedy, David P.; Chandler, John W.; McCulley, James P.
In: Contact Lens and Anterior Eye, Vol. 38, No. 3, 01.06.2015, p. 228-231.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome
AU - Kennedy, David P.
AU - Chandler, John W.
AU - McCulley, James P
PY - 2015/6/1
Y1 - 2015/6/1
N2 - Purpose: To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options. Case reports and discussion: Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed. Conclusions: The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications.
AB - Purpose: To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options. Case reports and discussion: Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed. Conclusions: The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications.
KW - Corneal epithelial stem cells
KW - Corneal stromal stem cells
KW - Ectrodactyly-ectodermal dysplasia-cleft syndrome
KW - Ocular surface disorders
KW - P63 mutations
UR - http://www.scopus.com/inward/record.url?scp=84929708405&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84929708405&partnerID=8YFLogxK
U2 - 10.1016/j.clae.2015.02.002
DO - 10.1016/j.clae.2015.02.002
M3 - Article
C2 - 25769661
AN - SCOPUS:84929708405
VL - 38
SP - 228
EP - 231
JO - Contact Lens and Anterior Eye
JF - Contact Lens and Anterior Eye
SN - 1367-0484
IS - 3
ER -