Kasoro za Macho

NaJoan Pellegrino, MD, Upstate Medical University

Imekaguliwa naAlicia R. Pekarsky, MD, State University of New York Upstate Medical University, Upstate Golisano Children's Hospital

Imepitiwa/Imerekebishwa Imebadilishwa Jul 2024

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Macho yanaweza kukosa, kuwa na umbo lililoharibika, au kutokua kikamilifu wakati wa kuzaliwa.

Utambuzi wa Ugonjwa
Matibabu

Kasoro za kuzaliwa nazo, pia zinajulikana kama hali zisizo za kawaida wakati wa kuzaliwa, ni kasoro za kimwili zinazotokea kabla ya mtoto kuzaliwa. "Kuzaliwa" inamaanisha "kuwepo wakati wa kuzaliwa." (Tazama pia Utangulizi wa Kasoro za Kuzaliwa za Uso na Fuvu la Kichwa.)

Kasoro za kuzaliwa za jicho ni pamoja na zifuatazo:

Hypertelorism: Macho yaliyo na nafasi kubwa kati yake, yanaweza kutokea katika magonjwa mengi ya kuzaliwa nayo (kundi la kasoro zilizopo wakati wa kuzaliwa ambazo hutokea pamoja)
Hypotelorism: Macho yanayokaribiana
Coloboma: Kipande cha tishu kinachokosekana katika sehemu yoyote ya jicho, kama vile kope, mboni, retina, au neva ya macho ya jicho moja au yote mawili.
Microphthalmia: Mboni ndogo ya jicho (unaweza kuathiri jicho moja au yote mawili)
Anophthalmia: Kutokuwepo kabisa kwa mboni ya jicho (kunaweza kutokea katika zaidi ya dalili 50 za kuzaliwa nazo)

Baadhi ya kasoro hizi za kuzaliwa zinaweza kusababishwa na mabadiliko ya jeni fulani. Nyingine zinaweza kusababishwa na matumizi ya mama ya dawa fulani, dawa haramu, au pombe akiwa mjamzito au maambukizi ambayo huenda alikuwa nayo akiwa mjamzito.

Mtoto aliye na kasoro ya kuzaliwa nayo machoni mara nyingi huwa na kasoro nyingine za kuzaliwa nazo, hasa uso au ubongo.

Mifano ya Kasoro za Kuzaliwa za Macho

Hypertelorism

This person has hypertelorism (widely spaced eyes; left) and also maxillary hypoplasia (small upper jaw; right).

Coloboma

This photo shows a person who has a coloboma in both eyes with enlarged pupils extending to the lower edge of the iris of each eye.

This photo shows a person who has a coloboma in both eyes with enlarged pupils extending to the lower edge of the iris

... soma zaidi

DR P. MARAZZI/SCIENCE PHOTO LIBRARY

Microphthalmia

This photo shows a person who has microphthalmia of both eyes (the left eye is more severely affected than the right).

Anophthalmia

This photo shows a person who has multiple birth defects on the right including a missing eyeball (anophthalmia), a deformed external ear (pinna), and a smaller right side of the face.

This photo shows a person who has multiple birth defects on the right including a missing eyeball (anophthalmia), a def

... soma zaidi

Hypertelorism

This person has hypertelorism (widely spaced eyes; left) and also maxillary hypoplasia (small upper jaw; right).

Coloboma

This photo shows a person who has a coloboma in both eyes with enlarged pupils extending to the lower edge of the iris of each eye.

This photo shows a person who has a coloboma in both eyes with enlarged pupils extending to the lower edge of the iris

... soma zaidi

DR P. MARAZZI/SCIENCE PHOTO LIBRARY

Microphthalmia

This photo shows a person who has microphthalmia of both eyes (the left eye is more severely affected than the right).

Anophthalmia

This photo shows a person who has multiple birth defects on the right including a missing eyeball (anophthalmia), a deformed external ear (pinna), and a smaller right side of the face.

This photo shows a person who has multiple birth defects on the right including a missing eyeball (anophthalmia), a def

... soma zaidi

Utambuzi wa Kasoro za Macho

Kabla ya kuzaliwa, uchunguzi wa picha za mawimbi ya sauti za kijusi na wakati mwingine kipimo cha damu
Baada ya kuzaliwa, uchunguzi wa kimwili wa mtoto mchanga
Upimaji wa jeni

Kabla ya kuzaliwa, madaktari wanaweza kutambua kasoro fulani za macho wakati wa uchunguzi wa picha ya mawimbi ya sauti na wakati mwingine kwa kufanya sampuli ya amniosentesisi au vilasi ya klorioni ili kupata sampuli ya DNA kutoka kwa kijusi ili kufanya upimaji wa jeni.

Baada ya kuzaliwa, madaktari wanaweza kutambua kasoro nyingi za macho wakati wa uchunguzi wa kimwili.

Kwa sababu jeni zisizo za kawaida zinaweza kuhusika katika uundaji wa kasoro za kuzaliwa za jicho, watoto walioathiriwa wanapaswa kupimwa na mtaalamu wa jeni. Mtaalamu wa kijenetiki ni daktari ambaye ni mtaalamu wa jenetiki (sayansi ya jeni na jinsi sifa au sifa fulani bainishi zinavyopitishwa kutoka kwa wazazi hadi kwa watoto). Upimaji wa kijenetiki wa sampuli ya damu ya mtoto unaweza kufanywa ili kuangalia kasoro za kromosomu na jeni. Upimaji huu unaweza kuwasaidia madaktari kubaini kama tatizo maalum la kijenetiki ndilo chanzo na kufutilia mbali sababu nyingine. Ikiwa kuna ugonjwa wa kijenetiki, familia zinaweza kufaidika na ushauri wa kijenetiki.

Matibabu ya Kasoro za Macho

Upasuaji

Watoto walio na mojawapo ya hali hizi wanapaswa kuchunguzwa na mtaalamu wa macho wa watoto. Daktari wa macho wa watoto ni daktari ambaye ni mtaalamu wa matatizo ya macho kwa watoto. Kasoro za kuzaliwa nazo katika jicho hutibiwa kwa upasuaji kwa kutumia mbinu mbalimbali za upasuaji.