DIEN OAN
yv ./v
NHAN MOTTRI/QNG HOT GLOCOM BAM SINH KHONG CO MONG MAT
c
Vu Thi Bich Thuy* Trdn ThuHd* J
I. TRirOfNG HOfP BENH
Binh nhdn: Trjnh Thj L, nQ', 25 tudi. Dja chi:
Xuan Trudng - Nam Dinh.
Ly do vdo viin: mat trai nhin md, chdi, chay nude mat, dau nhuc.
Binh sie: benh nlian hai mat nhin md tir nhd, khong dau nhiic chdi com. Nam 2008, MP da md lay T3 ngoai bao, sau md MP khdng sang ra nhung mat yen. Khoang hai tuan nay, mat trai dau do, nhuc, nhin md hon. Chua dieu tri gi.
Tien su gia dinh binh thudng, khong cd tien su glocom
Khdm: toan than: binh thudng
* Mdt phdi: TL: BBT 0,2m kinh khong tang.
Nhan ap: 16mmHg. Ket mac hdng, khong cuong
ta. Giac mac trong, tien phong khd danh gia dp sau.
Khdng cd mong mat, chi cdn mpt chut chan mdng mat an phia sau bd goc mdng mat giac mac va tua mi (phia dudi it hon phia tren). Dong tu 10mm. Due xo hoa bao sau the thuy tinh kem chat nhan ngay chinh gifta dien dong hi. Day mat kho soi ro. Sieu am: djch kinh van due.
* Mdt trdi: TL: DNT Im. Nhan ap: 32 mmHg.
Ket mac cuong tu ria. Giac mac trong, gian to hon binh thudng 13 x 14mm. Tien phdng khd danh gia dp sau.
Khong cd mdng mat, ehi cdn mgt chut chan mong mat an phia sau bd goc mong mat giac mac va tua mi (phia dudi it hon phia tren). The thuy tinh lech len tren, due mpt nua duai ngoai. Id day chang Zinn. Dich kinh van due nhe, vong mac hong, gai thj bd ro C/D = 0,7
Hinh 1. Hai mdt trudc md
*Khoa Mdt Tre em, Binh viin Mdt Trung uang
Nhan khoa Viet Nam (So 19 - 2010) 49
DIEN DAN
Can Idm sdng: mau, nude tieu, ehup tim phoi, kham ndi binh thudng.
Sieu am MP true 23,9mm khdng cd bong vong mac; MT true 24,9 mm khong cd bong vong mac.
Dien vong mac 2M: binh thuong.
MP MT Hinh 2. Hinh dnh sieu dm bdn phdn trudc nhdn cdu
Chan doan:
2M: khuyet mong mat bam sinh/duc T3 MT: Glocom.
MP: da mo lay TTT NB due bao sau Chi dinh: MP Laze bao sau
MT: cat be cung giac mac.
IL DAI CUONG 1. Dinh nghia
Nam 1818, lan dau tien Barratta mo ta tat khong mong mat. Tat khong mdng mit la tinh trang khong cd mong mat toan bp hoac chi thiy mpt chut chan mong mat an phia sau bd gdc mong mit giac mac va tua the mi.
2. Tan suat
Day la benh hiem gap, ty le xuit hien trong dan s6 tu 1/100.000 din 1/50.000. Theo Marilyn d Dan Mach, ty Ie nay la 1/96.000 dan s6, d Michigan la 1/50.000 dan sd.
3. Co' che benh sinh
Tat khong mdng mat thudng bilu hien d ca hai mat, benh xuat hien dan le d timg ca thi hoac mang tinh chat gia dinh. Theo mpt s6 tac gia, tat khdng
mong mat cd the di truyen theo gen trgi hoac gen lan tren nhiem sac the thudng, xay ra do dot biln gen PAX6 (gen dieu hda eac gen phat trien nhan cau trong qua trinh tao phoi mat) tai bang 13 nhanh ngan nhiem sac the so 11 ( l l p l 3 ) .
4. Phoi thai hgc
Vao tuan thu 6 den tuan thii 8 thai ky, mpt khoi te bao chua phan hda, phan chia tu mao thin kinh de hinh thanh nen nhu md mong mat. Co nhieu gia thuyet ve nguyen nhan tat khong mong mit nhimg hai gia thuyet dugc nhieu ngudi ung hp nhat cho rang tat khong mong mat la do khiem khuyet trong qua trinh phat trien ngoai bi than kinh, do suy ylu nguyen phat bd bong thj giai doan phoi 65 - 80mm Iam dot biln vj tri PAX6 tren NST l l p l 3 hoac do sai lac trong qua trinh phat trien trung phdi xay ra giai doan sdm cua phoi thai 20 - 25mm.
5. Phan loai
Ngay nay tat khdng mdng mit dugc phan loai dua tren ton thuong d ldp phoi thai, trong tuong lai viee phan loai se chinh xac hon nhd vao viec phan tich gen tren nhiem sac the. , • v, \ /
50 Nhan khoa Viet Nam (So 19 - 2010)
DIEN OAN
Logi 1: tdn thuang ldp ngoai bi (hinh thanh bieu mo sac to va cac co ddng tu) gay nen tat khong mdng mat.
Logi 2: tdn thuang Idp trung bi - mao than kinh:
- Ldp ngoai (hinh thanh npi md giac mac va
•viing be) gay di thudng Peter, loan san ban phan trudc (4q23 - q27), loan duong npi mo bam sinh di truyen.
- Ldp giua (hinh thanh nhu md giac mac) gay loan duong nhu mo bam sinh di truyen.
- Ldp trong (hinh thanh nhu mo mong mat) gay nen hoi chiing Axenfeld - Reiger.
6. Trieu chiing lam sang
6.1. Tat khdng mdng mdt dan thudn + Triiu chiing ca ndng
Sg anh sang: khi hdi bd me tre thay tre hay nham nghien mat nhat la khi ra nang.
Chay nude mat: nude mat sach, khong cd mu kem theo.
Rung giat nhan cau: xuat hien do thj luc cua tre thap.
+ Trieu chiing thuc the Lac: thudng gap lac trong
Mdng mat: khong cd mdng mat hoan toan hoac chi cd mot chiit chan mdng mat.
Soi gdc tien phdng: cau tnic gdc tien phdng binh thudng, co the thay mpt chut chan mong mat an phia sau bd gdc mdng mat giac mac va tua the mi.
Soi day mat: lang dgng lipid d vong mac ngoai bien.
+ Trieu chiing todn thdn: co the gap bat thudng he sinh due, tiet nieu, rdn loi, dj dang xuong (loan san xuong sp mat, nhieu ngdn), bat thuong rang, budn Wilms, cham phat trien tam than.
+ Khdm nghiem Idm sdng
Thj luc: giam thj luc nhieu, 86%) cac trudng hgp thj luc < 2/10.
Dien vong mac: bien dp dien vong mac thap khi thj luc < 3/10.
6.2. Tdt khdng mdng mdt phdi hgp
+ Sup mi: do phan ung lai trieu chiing sg anh sang.
+ Bdt thudng gidc mgc
Gap hau het d cae benh nhan truoc 2 tudi vdi due giac mac tien trien. Khdi dau mach mau hudng tam d lop nong giac mac ngoai bien, vi tri 6 va 12 gid sau lan toan chu vi giac mac. Cd the mat toan bp vong ria Vogt va te bao mam vung ria bieu mo giac mac.
"r^
ITinh 3. Due gidc mac Hinh 4. Mdng mdu gidc
tdn mach ntac
+ Glocom: 6 - 75%) tru'dng hgp tat khdng mdng mat di kem vdi benh glocom, hay gap d tuoi thanh thieu nien hay ngudi tre.
Hinh 5. Bdng gdc khi soi gdc tiin phong Day la nguyen nhan chinh gay giam thj luc.
Co che glocdm do tac nghen -vimg be hoac bi che phu bdi ehdm mdng mat. Vung ngoai bien cua ehdm mdng mat thilu san cd the gan vao phia trudc cua cung mac va dai thi mi.
Nhan khoa Viet Nam (So 19
DIEN OAN
+ Due vd lech thi thiiy tinh
Due thi thuy tinh gap d 50 - 58%) benh nhan tat khdng mong mit, thudng xuat hien trudc 20 tudi, cd the gap ngay sau sinh. Dac diem due the thiiy tinh thudng d cue trudc va phdi hgp vai tdn luu mang dong tu. Ngoai ra, mgt sd trudng hgp cd kem vdi lech thi thiiy tinh, chiem 56%o benh nhan.
+ Nhugc sdn thi thdn kinh vd hoang diim Do vong mac cung dugc phan chia tu lap ngoai bi than kinh eiing bieu mo va co' mong mat, nen khi dot bien xay ra trong thdi ky phdi thai ciing gay ra nhugc san thj than kinh va hoang diem. Trieu chiing hay gap d 75%) benh nhan tat khdng mdng mat, gay giam thj luc va rung giat nhan eau.
-I- Hpi chimg Miller
Hoi chiing Miller cd the xuat hien mang tinh chat don le hoac di truyen do dot bien thieu chudi 1 l p l 3 . Benh gap trong 30% benh nhan cd tat khong mong mat, thudng xuat hien trudc 5 tuoi. Benh nhan cd cac bieu hien nhu cd budu Wilms, bat thudng he sinh due - tiet nieu, phi dai nua ngudi, dj dang sp mat va thieu nang tri tue.
+ Hpi chimg Gillespie
Gap d 2%) benh nhan, co che do dot bien di truyen gen lan tren nhiem sac the thudng gay dj tat tieu nao va cac phan khac eua nao. Tre mat van
ddng tieu nao, cham phat triln tri tue.
7. Trieu chung can lam sang
Phan tich nhiem sic thi ciia benh nhan va gia dinh, dac biet phan tich gen PAX6 tren nhanh ngin nhiem sac the 11.
MRI he tiet nieu, sinh due, he thin kinh Trung uong de phat hien cac bat thudng he thdng.
Chup mach huynh quang va day mat de phat hien vien mdng mat va viing vd mach hoang diem.
8. Dilu trj . + Tie vdn
Tu van cd vai trd rat quan trpng trong tat khong mong mat, gia dinh va benh nhan can dugc tu van ve di truyen hoc eiia benh.
Khai thac benh sir toan gia dmh va kham mat cho gia dinh de phat hien tinh chat di truyen ciia benh.
+ Dieu tri trieu chung Dieu trj tat khiic xa neu ed.
Dieu trj nhugc thj va phau thuat dieu trj lac.
Sir dung kinh tiep xiic mau, mong mat nhan tao va dung cu trg thj trong mgt sd trudng hgp.
Dieu trj due the thiiy tinh va gidcdm.
+ Dieu tri nguyin nhdn ''''"
Theo doi djnh ky va cd phuong phap dieu trj hpp ly ddi vdi tirng giai doan.
TAI LIEU THAM KHAO
1. PHAN D A N , PHAM TRONG V A N , MAI QUOC TUNG, Benh mit bim sinh va di fruyin, 2004.
2. AMERICAN ACADEMY OF OPHTHALMOLOGY, Basic and clinical science course, Section 10: Glaucoma 1993 - 1994.
3. DOUGLAS J. RHEE AND MARK R PYFER,
The Wills eye Manual, office and emergency room diagnosis and treatment of eye disease p.31.
4. GUNTER K. VON NOORDEN, M.D., Binocular vision and ocular motility, fifth edition.
5. JOHN W. GITTINGER va GEORGE K.
ASDOURIAN, Nhdn khoa Idm sdng 2002.
52 Nhan khoa Viet Nam (So 19 - 2010)
